The American Journal of Human Genetics
- Validation and context-dependent effects of a prostate cancer polygenic risk score in the All of Us Research Program
- Expanded chromatin accessibility mapping explains genetic variation associated with complex traits in liver
- Mendelian randomization linking metabolites with enzymes reveals pathway regulation and therapeutic avenues
- This month in The Journal
- AncientProxy: A catalog of ancient proxies for modern genetic variants
- Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss
- MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy
- Competition in human genetic technologies: The current US legal landscape
- A gene-specific variance-control approach corrects polygenicity-driven inflation observed in transcriptome-wide association studies
- Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders
- Evaluating multi-ancestry genome-wide association methods: Statistical power, population structure, and practical implications
- Genetic regulation of fatty acid content in adipose tissue
- Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies
- Functional analysis of NPR2 variants supports the therapeutic rationale for CNP in short stature
- This month in The Journal
- LiMA: Robust inference of molecular mediation from summary statistics
- The dawn of interventional genetics
- De novo variants in KDM2A cause a syndromic neurodevelopmental disorder
- MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism
- GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders
- The relationship between genotype- and phenotype-based estimates of genetic liability to psychiatric disorders, in practice and in theory
- Interaction of identity and beliefs with genetic literacy
- Low population penetrance of variants associated with inherited retinal degenerations
- Racial and socioeconomic disparities in genetic evaluation and testing in the adult patient population
- MIRAGE: A Bayesian statistical method for gene-level rare-variant analysis incorporating functional annotations
- Genetic control of non-coding RNAs in the human brain and their implications for complex traits
- Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction
- Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia
- Functional classification of platelet gene variants using CRISPR HDR in CD34+ cell-derived megakaryocytes
- This month in The Journal
- Improving polygenic risk prediction performance by integrating electronic health records through phenotype embedding
- Genomic medicine year in review: 2025
- Transitions in interesting times
- Liver single-nucleus multiome profiling reveals cell-type mechanisms for cardiometabolic traits
- Large-scale integration of omics and electronic health records to identify potential risk protein biomarkers and therapeutic drugs for cancer prevention
- Interpreting the functional impact of genetic variants: The need for context qualifiers
- Residual allelic activity likely underlies the low rates of disease expression for predicted loss-of-function variants in population-scale biobanks
- Collaborative science in genomics: The value of data sharing and thoughtful stewardship
- Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia
- Training competencies and recommendations for the next generation of public health genetics: Reflections from current leaders in the field
- Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability
- Genetic regulation of the plasma proteome and its link to cardiometabolic disease in Greenlandic Inuit
- A deep dive into statistical modeling of RNA splicing QTLs reveals variants that explain neurodegenerative disease
- De novo variants in ATP2B1 lead to neurodevelopmental delay
- This month in The Journal
- Lessons learned: Recommendations for reproducible paleogenomic data analyses
- Origins and implications of intron retention quantitative trait loci in human tissues
- How to create personalized gene editing platforms: Next steps toward interventional genetics
- The Clinical Pharmacogenetics Implementation Consortium’s consensus-based framework for assigning allele function
- BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes
- Using the ancestral recombination graph to study the history of rare variants in founder populations
- Revealing the nervous system requirements of Alzheimer disease risk genes in Drosophila
- Logica: A likelihood framework for cross-ancestry local genetic correlation estimation using summary statistics
- Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder
- The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
- Maternal age and genome-wide failure of meiotic recombination are associated with triploid conceptions in humans
- A scalable framework for identifying allelic series from summary statistics
- The utility of ultra-deep RNA sequencing in Mendelian disorder diagnostics
- COMPADRE: Combined pedigree-aware distant relatedness estimation for improved pedigree reconstruction
- A scalable approach for genomic-first rare disorder detection in a healthcare-based population
- Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 818 trios
- A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B
- Local ancestry-informed GWAS of warfarin dose requirement in African Americans identifies a CYP2C19 splicing QTL
- Multiple-testing corrections in selection scans using identity-by-descent segments
- Unraveling the impact of VHL exon 2 mutations in erythrocytosis or von Hippel-Lindau disease identified RNA-binding proteins involved in VHL splicing
- Skeletal muscle eQTL meta-analysis implicates genes in the genetic architecture of muscular and cardiometabolic traits
- Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders
- Genetic architecture and analysis practices of circulating metabolites in the NHLBI Trans-Omics for Precision Medicine Program
- Unveiling tissue heterogeneity through genomic interaction-encoded image representation of RNA-sequencing data
- This Month in The Journal
- Cell-type deconvolution of bulk-blood RNA-seq reveals biological insights into neuropsychiatric disorders
- Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction
- Role of CAMK2D in neurodevelopment and associated conditions
- CRISPR activation to characterize splice-altering variants in easily accessible cells
- The shared ancestry between the C9orf72 hexanucleotide repeat expansion and intermediate-length alleles using haplotype sharing trees and HAPTK
- Regulatory features aid interpretation of 3′UTR variants
- A common NFKB1 variant detected through antibody analysis in UK Biobank predicts risk of infection and allergy
- Neuronal MAPT expression is mediated by long-range interactions with cis-regulatory elements
- Adaptation of a mutual exclusivity framework to identify driver mutations within oncogenic pathways
- STIGMA: Single-cell tissue-specific gene prioritization using machine learning
- A comprehensive analysis of clinical and polygenic germline influences on somatic mutational burden
- Systematic identification of genotype-dependent enhancer variants in eosinophilic esophagitis
- A Bayesian fine-mapping model using a continuous global-local shrinkage prior with applications in prostate cancer analysis
