Etiqueta: AmJHumGenet

This study provides a comprehensive catalog of expression, splicing, and alternative polyadenylation QTLs in gastric tissues from Chinese individuals. Integration with gastric cancer GWAS data identified 34 susceptibility genes. Functional experiments …

Genetic variants can regulate many aspects of transcription, any of which could influence complex traits. We developed LaDDR, a method for generating latent data-driven RNA phenotypes from RNA sequencing read coverage. LaDDR substantially increases dis…

Genomic instability scores for HRD in high-grade ovarian cancer provide robust evidence for BRCA1 and BRCA2 variant classification according to ACMG/AMP criteria. Analysis of 4,943 tumors resulted in an evidence strengh of supporting pathogenic for HRD…

Natural history and age-of-onset data are critical for understanding the penetrance, expressivity, and progression of rare monogenic conditions. This perspective discusses challenges in defining and curating these data and considers how they may inform…

Genomic instability scores for HRD in high-grade ovarian cancer provide robust evidence for BRCA1 and BRCA2 variant classification according to ACMG/AMP criteria. Analysis of 4,943 tumors resulted in an evidence strengh of supporting pathogenic for HRD…

Natural history and age-of-onset data are critical for understanding the penetrance, expressivity, and progression of rare monogenic conditions. This perspective discusses challenges in defining and curating these data and considers how they may inform…

Polygenic scores stratify disease risk but often miss individual variation. We show that individuals whose traits deviate from polygenic expectation are enriched for rare, damaging variants. This misalignment framework supports a liability threshold mo…

Biji et al. present a scalable approach to quantify social determinants of health and integrate them into disease risk prediction models. By applying multiple correspondence analysis to All of Us biobank surveys, they generate embeddings that consisten…

Biji et al. present a scalable approach to quantify social determinants of health and integrate them into disease risk prediction models. By applying multiple correspondence analysis to All of Us biobank surveys, they generate embeddings that consisten…

Polygenic scores stratify disease risk but often miss individual variation. We show that individuals whose traits deviate from polygenic expectation are enriched for rare, damaging variants. This misalignment framework supports a liability threshold mo…