Etiqueta: AmJHumGenet
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Newborn screening for type 1 diabetes using genome-based risk scores in the Early Check program
The application of genetic risk scores (GRSs) in newborn screening is in its infancy. This study demonstrates the feasibility of large-scale GRS-based screening for type 1 diabetes risk using whole-genome sequencing data from dried blood spots in a rea…
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This month in The Journal
As genomic medicine is being increasingly integrated into healthcare systems, we’re seeing a shift in workforce needs. More clinicians, genetic counselors, and scientists need specific training in variant interpretation, but education, training initiat…
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2025 ASHG awards and addresses
Each year at the annual meeting of The American Society of Human Genetics (ASHG), addresses are given in honor of The Society and several award winners. A summary of each of these is provided below. On the following pages, we have printed the President…
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MetaGLIMPSE: Meta-imputation of low-coverage sequencing data for modern and ancient genomes
MetaGLIMPSE is a meta-imputation method that improves rare-variant detection in low-coverage sequencing by combining multiple reference panels—without sharing individual genotype data. It outperforms single-panel imputation and offers rapid, privacy-pr…
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Identification of de novo variants from parent-proband duos via long-read sequencing
Determining de novo status is often what upgrades a variant from VUS to pathogenic, but it has not been possible without sequencing both biological parents. We developed, extensively evaluated, and applied a method that leverages long-read sequencing t…
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Higher eQTL power reveals signals that boost GWAS colocalization
Rosen et al. quantify how eQTL study sample size influences signal discovery and GWAS colocalization. Integrating evidence from recent eQTL studies, they show that limited statistical power influences the comparison of GWAS and eQTL studies. Well-power…
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Incorporating polygenic risk scores and social determinants of health across populations: Considerations and best practices in research
Despite increasing focus on the intersection of genetic and social risk factors on health, heterogeneity in how these factors are measured, distributed, and analyzed across populations and datasets complicates modeling efforts across contexts. We highl…
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Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, cause a late-onset retinal dystrophy
Photoreceptors are neurons in the retina that are responsible for detecting light. We identified pathogenic DNA variants in SAXO6 in individuals with progressive blindness and discovered that SAXO6 is one of the proteins that likely stabilizes the dist…
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Bi-allelic variants in NRDC cause a neurodevelopmental disorder characterized by neonatal lethality, microcephaly, and brain abnormalities
The study investigated the function of NRDC as a neurogenetic syndrome using a Drosophila model and affected individual-derived cells. Investigators from 10 different countries merged the efforts and identified 14 individuals with loss-of-function muta…
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Enhanced muscle uptake of chemically optimized miR-23b antisense oligonucleotides as lead compounds for myotonic dystrophy type 1
We address the lack of optimized antimiRs to upregulate MBNL1 in myotonic dystrophy. Through in vitro and in vivo screening and oleic acid conjugation, we identify antimiR leads that boost MBNL1, correct splicing defects, and improve muscle function, h…