{"id":674,"date":"2024-02-13T23:54:39","date_gmt":"2024-02-13T23:54:39","guid":{"rendered":"https:\/\/sebgc.es\/blog\/?page_id=674"},"modified":"2024-02-13T23:54:40","modified_gmt":"2024-02-13T23:54:40","slug":"the-american-journal-of-human-genetics","status":"publish","type":"page","link":"https:\/\/sebigec.es\/blog\/index.php\/the-american-journal-of-human-genetics\/","title":{"rendered":"The American Journal of Human Genetics"},"content":{"rendered":"<ul class=\"wp-block-latest-posts__list is-grid columns-3 has-dates wp-block-latest-posts\"><li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/04\/02\/multi-ancestry-transcriptome-prediction-with-functionally-informed-variants-in-topmed-mesa-improves-performance-of-transcriptome-wide-association-studies\/\">Multi-ancestry transcriptome prediction with functionally informed variants in TOPMed MESA improves performance of transcriptome-wide association studies<\/a><time datetime=\"2026-04-02T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">abril 2, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/04\/02\/associations-of-genetic-variants-with-gene-expression-factors-reveal-biological-pathways-underlying-complex-traits\/\">Associations of genetic variants with gene expression factors reveal biological pathways underlying complex traits<\/a><time datetime=\"2026-04-02T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">abril 2, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/04\/02\/this-month-in-the-journal-7\/\">This month in The Journal<\/a><time datetime=\"2026-04-02T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">abril 2, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/25\/bi-allelic-variants-in-ola1-cause-a-neurodevelopmental-disorder-with-joint-hypermobility\/\">Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility<\/a><time datetime=\"2026-03-25T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 25, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/25\/bloc1s1-variants-cause-lysosomal-and-autophagic-defects-resulting-in-a-hypomyelinating-leukodystrophy-with-epileptic-encephalopathy\/\">BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy<\/a><time datetime=\"2026-03-25T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 25, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/24\/adaptive-admixture-at-ackr1-the-duffy-blood-group-locus-may-have-shaped-plasmodium-vivax-prevalence-in-oman\/\">Adaptive admixture at ACKR1, the Duffy blood group locus, may have shaped Plasmodium vivax prevalence in Oman<\/a><time datetime=\"2026-03-24T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 24, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/24\/genome-wide-detection-of-human-5%e2%80%b2-utr-variants-that-impact-protein-translation\/\">Genome-wide detection of human 5\u2032 UTR variants that impact protein translation<\/a><time datetime=\"2026-03-24T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 24, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/23\/the-electronic-medical-records-and-genomics-study-design-and-analytic-framework-for-assessing-the-impact-of-genome-informed-risk-assessments\/\">The Electronic Medical Records and Genomics study: Design and analytic framework for assessing the impact of genome-informed risk assessments<\/a><time datetime=\"2026-03-23T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 23, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/23\/focus-on-single-gene-effects-limits-discovery-and-interpretation-of-complex-trait-associated-variants\/\">Focus on single-gene effects limits discovery and interpretation of complex-trait-associated variants<\/a><time datetime=\"2026-03-23T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 23, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/23\/return-of-genome-informed-risk-assessment-results-for-common-conditions-to-23840-adults-and-children-an-emerge-network-study\/\">Return of genome-informed risk-assessment results for common conditions to 23,840 adults and children: An eMERGE network study<\/a><time datetime=\"2026-03-23T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 23, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/20\/bi-allelic-variants-in-the-non-protein-coding-minor-spliceosome-components-rnu6atac-and-rnu4atac-cause-syndromic-monogenic-autoimmune-diabetes\/\">Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes<\/a><time datetime=\"2026-03-20T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 20, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/19\/genetics-of-skeletal-proportions-across-two-different-populations\/\">Genetics of skeletal proportions across two different populations<\/a><time datetime=\"2026-03-19T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 19, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/19\/best-practices-for-improving-alignment-and-variant-calling-on-human-sex-chromosomes\/\">Best practices for improving alignment and variant calling on human sex chromosomes<\/a><time datetime=\"2026-03-19T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 19, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/13\/selective-chr21-homolog-silencing-reveals-polymorphisms-influence-the-epigenetic-silencing-and-functional-dosage-of-rwdd2b\/\">Selective chr21 homolog silencing reveals polymorphisms influence the epigenetic silencing and functional dosage of RWDD2B<\/a><time datetime=\"2026-03-13T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 13, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/10\/inclusion-bias-affects-common-variant-discovery-and-replication-in-a-health-system-linked-biobank\/\">Inclusion bias affects common variant discovery and replication in a health-system linked biobank<\/a><time datetime=\"2026-03-10T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 10, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/05\/2025-ashg-scientific-achievement-award-decoding-the-genome-from-structure-to-development-to-the-promise-of-precision-medicine\/\">2025 ASHG Scientific Achievement Award: Decoding the genome\u2014From structure to development to the promise of precision medicine<\/a><time datetime=\"2026-03-05T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 5, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/05\/2025-ashg-lifetime-achievement-award\/\">2025 ASHG Lifetime Achievement Award<\/a><time datetime=\"2026-03-05T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 5, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/05\/2025-ashg-leadership-award\/\">2025 ASHG Leadership Award<\/a><time datetime=\"2026-03-05T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 5, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/05\/2025-ashg-presidential-address-stronger-together-advancing-human-genetics-through-the-power-of-community\/\">2025 ASHG presidential address: Stronger together: Advancing human genetics through the power of community<\/a><time datetime=\"2026-03-05T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 5, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/05\/mind-the-gap-characterizing-bias-due-to-population-mismatch-in-two-sample-mendelian-randomization\/\">Mind the gap: Characterizing bias due to population mismatch in two-sample Mendelian randomization<\/a><time datetime=\"2026-03-05T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 5, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/05\/newborn-screening-for-type-1-diabetes-using-genome-based-risk-scores-in-the-early-check-program\/\">Newborn screening for type 1 diabetes using genome-based risk scores in the Early Check program<\/a><time datetime=\"2026-03-05T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 5, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/05\/this-month-in-the-journal-6\/\">This month in The Journal<\/a><time datetime=\"2026-03-05T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 5, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/05\/2025-ashg-awards-and-addresses\/\">2025 ASHG awards and addresses<\/a><time datetime=\"2026-03-05T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 5, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/05\/metaglimpse-meta-imputation-of-low-coverage-sequencing-data-for-modern-and-ancient-genomes\/\">MetaGLIMPSE: Meta-imputation of low-coverage sequencing data for modern and ancient genomes<\/a><time datetime=\"2026-03-05T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 5, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/05\/identification-of-de-novo-variants-from-parent-proband-duos-via-long-read-sequencing\/\">Identification of de novo variants from parent-proband duos via long-read sequencing<\/a><time datetime=\"2026-03-05T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 5, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/04\/higher-eqtl-power-reveals-signals-that-boost-gwas-colocalization\/\">Higher eQTL power reveals signals that boost GWAS colocalization<\/a><time datetime=\"2026-03-04T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 4, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/04\/incorporating-polygenic-risk-scores-and-social-determinants-of-health-across-populations-considerations-and-best-practices-in-research\/\">Incorporating polygenic risk scores and social determinants of health across populations: Considerations and best practices in research<\/a><time datetime=\"2026-03-04T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">marzo 4, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/02\/24\/loss-of-function-variants-in-saxo6-encoding-a-microtubule-inner-protein-of-photoreceptor-cilia-cause-a-late-onset-retinal-dystrophy\/\">Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, cause a late-onset retinal dystrophy<\/a><time datetime=\"2026-02-24T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 24, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/02\/23\/bi-allelic-variants-in-nrdc-cause-a-neurodevelopmental-disorder-characterized-by-neonatal-lethality-microcephaly-and-brain-abnormalities\/\">Bi-allelic variants in NRDC cause a neurodevelopmental disorder characterized by neonatal lethality, microcephaly, and brain abnormalities<\/a><time datetime=\"2026-02-23T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 23, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/02\/20\/enhanced-muscle-uptake-of-chemically-optimized-mir-23b-antisense-oligonucleotides-as-lead-compounds-for-myotonic-dystrophy-type-1\/\">Enhanced muscle uptake of chemically optimized miR-23b antisense oligonucleotides as lead compounds for myotonic dystrophy type 1<\/a><time datetime=\"2026-02-20T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 20, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/02\/19\/bi-allelic-variants-in-fsd1l-cause-retinitis-pigmentosa-with-or-without-neurological-involvement\/\">Bi-allelic variants in FSD1L cause retinitis pigmentosa with or without neurological involvement<\/a><time datetime=\"2026-02-19T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 19, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/02\/19\/bi-allelic-variants-in-fsd1l-cause-a-neurodevelopmental-disorder-overlapping-with-l1-syndrome\/\">Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome<\/a><time datetime=\"2026-02-19T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 19, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/02\/17\/multiple-testing-corrections-in-case-control-studies-using-identity-by-descent-segments\/\">Multiple-testing corrections in case-control studies using identity-by-descent segments<\/a><time datetime=\"2026-02-17T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 17, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/02\/12\/smn1-variants-identified-by-false-positive-sma-newborn-screening-tests-therapeutic-hurdles-and-functional-and-epidemiological-solutions\/\">SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions<\/a><time datetime=\"2026-02-12T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 12, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/02\/12\/rare-variant-aggregation-highlights-disease-linked-genes-associated-with-brain-volume-variation\/\">Rare-variant aggregation highlights disease-linked genes associated with brain volume variation<\/a><time datetime=\"2026-02-12T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 12, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/02\/10\/a-cardiovascular-craniofacial-and-neurodevelopmental-disorder-caused-by-loss-of-function-variants-in-the-eif3-complex-component-genes-eif3a-and-eif3b-2\/\">A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B<\/a><time datetime=\"2026-02-10T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 10, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/02\/10\/an-endothelial-rna-splicing-atlas-catalogs-effects-of-il-1%ce%b2-and-identifies-an-alternative-procr-isoform-with-genetic-links-to-pleiotropic-vascular-disease\/\">An endothelial RNA splicing atlas catalogs effects of IL-1\u03b2 and identifies an alternative PROCR isoform with genetic links to pleiotropic vascular disease<\/a><time datetime=\"2026-02-10T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 10, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/02\/05\/validation-and-context-dependent-effects-of-a-prostate-cancer-polygenic-risk-score-in-the-all-of-us-research-program\/\">Validation and context-dependent effects of a prostate cancer polygenic risk score in the All of Us Research Program<\/a><time datetime=\"2026-02-05T16:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 5, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/02\/05\/expanded-chromatin-accessibility-mapping-explains-genetic-variation-associated-with-complex-traits-in-liver\/\">Expanded chromatin accessibility mapping explains genetic variation associated with complex traits in liver<\/a><time datetime=\"2026-02-05T16:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 5, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/02\/05\/mendelian-randomization-linking-metabolites-with-enzymes-reveals-pathway-regulation-and-therapeutic-avenues\/\">Mendelian randomization linking metabolites with enzymes reveals pathway regulation and therapeutic avenues<\/a><time datetime=\"2026-02-05T16:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 5, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/02\/05\/this-month-in-the-journal-5\/\">This month in The Journal<\/a><time datetime=\"2026-02-05T16:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 5, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/02\/04\/bi-allelic-loss-of-function-variants-in-jkamp-cause-a-neurodevelopmental-syndrome-associated-with-dysregulation-of-gpr37-trafficking\/\">Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking<\/a><time datetime=\"2026-02-04T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 4, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/02\/04\/variant-interpretation-training-for-the-genomics-era-learning-outcomes-to-inform-professional-competencies-and-education\/\">Variant interpretation training for the genomics era: Learning outcomes to inform professional competencies and education<\/a><time datetime=\"2026-02-04T17:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 4, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/27\/ancientproxy-a-catalog-of-ancient-proxies-for-modern-genetic-variants\/\">AncientProxy: A catalog of ancient proxies for modern genetic variants<\/a><time datetime=\"2026-01-27T16:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">enero 27, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/26\/dominant-and-recessive-atoh1-variants-cause-distinct-neurodevelopmental-disorders-with-hearing-loss\/\">Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss<\/a><time datetime=\"2026-01-26T16:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">enero 26, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/21\/mdga2-homozygous-loss-of-function-variants-cause-developmental-and-epileptic-encephalopathy\/\">MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy<\/a><time datetime=\"2026-01-21T16:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">enero 21, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/21\/competition-in-human-genetic-technologies-the-current-us-legal-landscape\/\">Competition in human genetic technologies: The current US legal landscape<\/a><time datetime=\"2026-01-21T16:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">enero 21, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/20\/a-gene-specific-variance-control-approach-corrects-polygenicity-driven-inflation-observed-in-transcriptome-wide-association-studies\/\">A gene-specific variance-control approach corrects polygenicity-driven inflation observed in transcriptome-wide association studies<\/a><time datetime=\"2026-01-20T16:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">enero 20, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/15\/bi-allelic-variants-in-neuronal-adhesion-molecule-astrotactin-1-gene-astn1-cause-diverse-neurodevelopmental-disorders\/\">Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders<\/a><time datetime=\"2026-01-15T16:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">enero 15, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/14\/evaluating-multi-ancestry-genome-wide-association-methods-statistical-power-population-structure-and-practical-implications\/\">Evaluating multi-ancestry genome-wide association methods: Statistical power, population structure, and practical implications<\/a><time datetime=\"2026-01-14T16:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">enero 14, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/13\/genetic-regulation-of-fatty-acid-content-in-adipose-tissue\/\">Genetic regulation of fatty acid content in adipose tissue<\/a><time datetime=\"2026-01-13T16:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">enero 13, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/12\/molecular-genotype-phenotype-correlation-in-actb-and-actg1-related-non-muscle-actinopathies\/\">Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies<\/a><time datetime=\"2026-01-12T16:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">enero 12, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/08\/functional-analysis-of-npr2-variants-supports-the-therapeutic-rationale-for-cnp-in-short-stature\/\">Functional analysis of NPR2 variants supports the therapeutic rationale for CNP in short stature<\/a><time datetime=\"2026-01-08T23:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">enero 8, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/08\/this-month-in-the-journal-4\/\">This month in The Journal<\/a><time datetime=\"2026-01-08T23:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">enero 8, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/08\/lima-robust-inference-of-molecular-mediation-from-summary-statistics\/\">LiMA: Robust inference of molecular mediation from summary statistics<\/a><time datetime=\"2026-01-08T23:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">enero 8, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/08\/the-dawn-of-interventional-genetics\/\">The dawn of interventional genetics<\/a><time datetime=\"2026-01-08T23:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">enero 8, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/29\/de-novo-variants-in-kdm2a-cause-a-syndromic-neurodevelopmental-disorder\/\">De novo variants in KDM2A cause a syndromic neurodevelopmental disorder<\/a><time datetime=\"2025-12-29T23:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 29, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/23\/msh3-is-a-genetic-modifier-of-somatic-repeat-instability-in-x-linked-dystonia-parkinsonism\/\">MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism<\/a><time datetime=\"2025-12-23T23:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 23, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/23\/ga4gh-phenopacket-driven-characterization-of-genotype-phenotype-correlations-in-mendelian-disorders\/\">GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders<\/a><time datetime=\"2025-12-23T23:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 23, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/22\/the-relationship-between-genotype-and-phenotype-based-estimates-of-genetic-liability-to-psychiatric-disorders-in-practice-and-in-theory\/\">The relationship between genotype- and phenotype-based estimates of genetic liability to psychiatric disorders, in practice and in theory<\/a><time datetime=\"2025-12-22T23:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 22, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/22\/interaction-of-identity-and-beliefs-with-genetic-literacy\/\">Interaction of identity and beliefs with genetic literacy<\/a><time datetime=\"2025-12-22T23:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 22, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/22\/low-population-penetrance-of-variants-associated-with-inherited-retinal-degenerations\/\">Low population penetrance of variants associated with inherited retinal degenerations<\/a><time datetime=\"2025-12-22T23:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 22, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/19\/racial-and-socioeconomic-disparities-in-genetic-evaluation-and-testing-in-the-adult-patient-population\/\">Racial and socioeconomic disparities in genetic evaluation and testing in the adult patient population<\/a><time datetime=\"2025-12-19T23:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 19, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/19\/mirage-a-bayesian-statistical-method-for-gene-level-rare-variant-analysis-incorporating-functional-annotations\/\">MIRAGE: A Bayesian statistical method for gene-level rare-variant analysis incorporating functional annotations<\/a><time datetime=\"2025-12-19T23:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 19, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/16\/genetic-control-of-non-coding-rnas-in-the-human-brain-and-their-implications-for-complex-traits\/\">Genetic control of non-coding RNAs in the human brain and their implications for complex traits<\/a><time datetime=\"2025-12-16T23:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 16, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/11\/plasma-dna-profile-associated-with-dnase1l3-gene-mutations-clinical-observations-relationships-to-nuclease-substrate-preference-and-in-vivo-correction\/\">Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction<\/a><time datetime=\"2025-12-11T23:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 11, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/04\/palindrome-mediated-16p13-3-triplications-cause-a-recognizable-neurodegenerative-disorder-with-ataxia\/\">Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia<\/a><time datetime=\"2025-12-04T23:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 4, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/04\/functional-classification-of-platelet-gene-variants-using-crispr-hdr-in-cd34-cell-derived-megakaryocytes\/\">Functional classification of platelet gene variants using CRISPR HDR in CD34+ cell-derived megakaryocytes<\/a><time datetime=\"2025-12-04T18:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 4, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/04\/this-month-in-the-journal-3\/\">This month in The Journal<\/a><time datetime=\"2025-12-04T18:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 4, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/04\/improving-polygenic-risk-prediction-performance-by-integrating-electronic-health-records-through-phenotype-embedding\/\">Improving polygenic risk prediction performance by integrating electronic health records through phenotype embedding<\/a><time datetime=\"2025-12-04T18:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 4, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/04\/genomic-medicine-year-in-review-2025\/\">Genomic medicine year in review: 2025<\/a><time datetime=\"2025-12-04T18:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 4, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/04\/transitions-in-interesting-times\/\">Transitions in interesting times<\/a><time datetime=\"2025-12-04T18:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 4, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/02\/liver-single-nucleus-multiome-profiling-reveals-cell-type-mechanisms-for-cardiometabolic-traits\/\">Liver single-nucleus multiome profiling reveals cell-type mechanisms for cardiometabolic traits<\/a><time datetime=\"2025-12-02T23:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 2, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/02\/large-scale-integration-of-omics-and-electronic-health-records-to-identify-potential-risk-protein-biomarkers-and-therapeutic-drugs-for-cancer-prevention\/\">Large-scale integration of omics and electronic health records to identify potential risk protein biomarkers and therapeutic drugs for cancer prevention<\/a><time datetime=\"2025-12-02T23:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 2, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/01\/interpreting-the-functional-impact-of-genetic-variants-the-need-for-context-qualifiers\/\">Interpreting the functional impact of genetic variants: The need for context qualifiers<\/a><time datetime=\"2025-12-01T23:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 1, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/24\/residual-allelic-activity-likely-underlies-the-low-rates-of-disease-expression-for-predicted-loss-of-function-variants-in-population-scale-biobanks\/\">Residual allelic activity likely underlies the low rates of disease expression for predicted loss-of-function variants in population-scale biobanks<\/a><time datetime=\"2025-11-24T18:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 24, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/20\/collaborative-science-in-genomics-the-value-of-data-sharing-and-thoughtful-stewardship\/\">Collaborative science in genomics: The value of data sharing and thoughtful stewardship<\/a><time datetime=\"2025-11-20T18:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 20, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/19\/genetic-variants-in-esrrg-are-associated-with-a-dominant-non-progressive-congenital-movement-disorder-with-ataxia\/\">Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia<\/a><time datetime=\"2025-11-19T18:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 19, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/19\/training-competencies-and-recommendations-for-the-next-generation-of-public-health-genetics-reflections-from-current-leaders-in-the-field\/\">Training competencies and recommendations for the next generation of public health genetics: Reflections from current leaders in the field<\/a><time datetime=\"2025-11-19T18:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 19, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/18\/bi-allelic-prmt9-loss-of-function-variants-cause-a-syndromic-form-of-intellectual-disability\/\">Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability<\/a><time datetime=\"2025-11-18T18:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 18, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/12\/genetic-regulation-of-the-plasma-proteome-and-its-link-to-cardiometabolic-disease-in-greenlandic-inuit\/\">Genetic regulation of the plasma proteome and its link to cardiometabolic disease in Greenlandic Inuit<\/a><time datetime=\"2025-11-12T18:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 12, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/12\/a-deep-dive-into-statistical-modeling-of-rna-splicing-qtls-reveals-variants-that-explain-neurodegenerative-disease\/\">A deep dive into statistical modeling of RNA splicing QTLs reveals variants that explain neurodegenerative disease<\/a><time datetime=\"2025-11-12T18:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 12, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/11\/de-novo-variants-in-atp2b1-lead-to-neurodevelopmental-delay\/\">De novo variants in ATP2B1 lead to neurodevelopmental delay<\/a><time datetime=\"2025-11-11T18:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 11, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/06\/this-month-in-the-journal-2\/\">This month in The Journal<\/a><time datetime=\"2025-11-06T02:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 6, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/05\/lessons-learned-recommendations-for-reproducible-paleogenomic-data-analyses\/\">Lessons learned: Recommendations for reproducible paleogenomic data analyses<\/a><time datetime=\"2025-11-05T18:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 5, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/04\/origins-and-implications-of-intron-retention-quantitative-trait-loci-in-human-tissues\/\">Origins and implications of intron retention quantitative trait loci in human tissues<\/a><time datetime=\"2025-11-04T18:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 4, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/10\/31\/how-to-create-personalized-gene-editing-platforms-next-steps-toward-interventional-genetics\/\">How to create personalized gene editing platforms: Next steps toward interventional genetics<\/a><time datetime=\"2025-10-31T18:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">octubre 31, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/10\/31\/the-clinical-pharmacogenetics-implementation-consortiums-consensus-based-framework-for-assigning-allele-function\/\">The Clinical Pharmacogenetics Implementation Consortium\u2019s consensus-based framework for assigning allele function<\/a><time datetime=\"2025-10-31T18:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">octubre 31, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/10\/30\/brca1-brca2-and-palb2-related-fanconi-anemia-scope-to-expand-disease-phenotypic-features-and-predict-breast-cancer-risk-in-heterozygotes\/\">BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes<\/a><time datetime=\"2025-10-30T18:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">octubre 30, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/10\/30\/using-the-ancestral-recombination-graph-to-study-the-history-of-rare-variants-in-founder-populations\/\">Using the ancestral recombination graph to study the history of rare variants in founder populations<\/a><time datetime=\"2025-10-30T18:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">octubre 30, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/10\/29\/revealing-the-nervous-system-requirements-of-alzheimer-disease-risk-genes-in-drosophila\/\">Revealing the nervous system requirements of Alzheimer disease risk genes in Drosophila<\/a><time datetime=\"2025-10-29T18:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">octubre 29, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/10\/23\/logica-a-likelihood-framework-for-cross-ancestry-local-genetic-correlation-estimation-using-summary-statistics\/\">Logica: A likelihood framework for cross-ancestry local genetic correlation estimation using summary statistics<\/a><time datetime=\"2025-10-23T02:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">octubre 23, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/10\/22\/bi-allelic-variants-in-the-ribosomal-protein-rps6kc1-cause-a-complex-neurodevelopmental-disorder\/\">Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder<\/a><time datetime=\"2025-10-22T02:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">octubre 22, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/10\/18\/the-clinical-and-molecular-spectrum-of-the-kdm6b-related-neurodevelopmental-disorder\/\">The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder<\/a><time datetime=\"2025-10-18T02:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">octubre 18, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/10\/14\/maternal-age-and-genome-wide-failure-of-meiotic-recombination-are-associated-with-triploid-conceptions-in-humans\/\">Maternal age and genome-wide failure of meiotic recombination are associated with triploid conceptions in humans<\/a><time datetime=\"2025-10-14T02:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">octubre 14, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/10\/13\/a-scalable-framework-for-identifying-allelic-series-from-summary-statistics\/\">A scalable framework for identifying allelic series from summary statistics<\/a><time datetime=\"2025-10-13T02:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">octubre 13, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/10\/10\/the-utility-of-ultra-deep-rna-sequencing-in-mendelian-disorder-diagnostics\/\">The utility of ultra-deep RNA sequencing in Mendelian disorder diagnostics<\/a><time datetime=\"2025-10-10T02:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">octubre 10, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/10\/09\/compadre-combined-pedigree-aware-distant-relatedness-estimation-for-improved-pedigree-reconstruction\/\">COMPADRE: Combined pedigree-aware distant relatedness estimation for improved pedigree reconstruction<\/a><time datetime=\"2025-10-09T02:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">octubre 9, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/10\/06\/a-scalable-approach-for-genomic-first-rare-disorder-detection-in-a-healthcare-based-population\/\">A scalable approach for genomic-first rare disorder detection in a healthcare-based population<\/a><time datetime=\"2025-10-06T02:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">octubre 6, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/10\/06\/distinguishing-syndromic-and-nonsyndromic-cleft-palate-through-analysis-of-protein-altering-de-novo-variants-in-818-trios\/\">Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 818 trios<\/a><time datetime=\"2025-10-06T02:00:00+00:00\" class=\"wp-block-latest-posts__post-date\">octubre 6, 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