Categoría: The American Journal of Human Genetics

Using Diet Network models and explainable AI methods, we develop a robust framework for genetic-ancestry inference from SNP data across large-scale biobanks. The models generalize across datasets with differing SNP coverage and capture latent populatio…

Perrault syndrome (MIM: 233400, PRLTS1) is a rare autosomal recessive condition characterized by sensorineural hearing loss (SNHL) in both sexes and primary ovarian insufficiency (POI) in 46,XX karyotype females.1 Neurological features, including learn…

How can we reliably use genetics to find interventions that treat disease progression? This study evaluates Mendelian randomization methods designed to address index event bias, revealing critical performance differences and providing a practical roadm…

Nondisjunction, the failure of chromosomes to separate, results in aneuploidies, in which cells have an abnormal number of chromosomes. Centromeres play an essential role in segregation of homologous chromosomes and sister chromatids. It has been hypot…

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…

Using Diet Network models and explainable AI methods, we develop a robust framework for genetic-ancestry inference from SNP data across large-scale biobanks. The models generalize across datasets with differing SNP coverage and capture latent populatio…

Perrault syndrome (MIM: 233400, PRLTS1) is a rare autosomal recessive condition characterized by sensorineural hearing loss (SNHL) in both sexes and primary ovarian insufficiency (POI) in 46,XX karyotype females.1 Neurological features, including learn…

How can we reliably use genetics to find interventions that treat disease progression? This study evaluates Mendelian randomization methods designed to address index event bias, revealing critical performance differences and providing a practical roadm…

Nondisjunction, the failure of chromosomes to separate, results in aneuploidies, in which cells have an abnormal number of chromosomes. Centromeres play an essential role in segregation of homologous chromosomes and sister chromatids. It has been hypot…