Categoría: The American Journal of Human Genetics

We measure the impact of every possible amino acid change in the autoimmune regulator protein AIRE via fluorescent reporter assay, providing a variant effect map and proactive evidence that enables more accurate pathogenicity classification of missense…

To the Editor: We are writing regarding the article by Zaslavsky et al.,1 published on January 8, 2026, in The American Journal of Human Genetics titled “Low population penetrance of variants associated with inherited retinal degenerations.” The study …

To the Editor: We appreciate the interest of Drs. Quinodoz and Leroy in our publication. In general, we agree that further studies are required to determine how generalizable the reported findings are. That said, we believe the data reported provide co…

Whereas cis-acting regulatory variants are located near their target genes and affect regions such as promoters and enhancers, trans-acting regulatory variants can be located anywhere in the genome and affect expression through a variety of indirect me…

By integrating clinical phenotyping, association studies, molecular functional studies, and Drosophila modeling, the authors demonstrate that de novo variants in the RNA-binding protein ELAVL2 cause a neurodevelopmental disorder through haploinsufficie…

By integrating clinical phenotyping, association studies, molecular functional studies, and Drosophila modeling, the authors demonstrate that de novo variants in the RNA-binding protein ELAVL2 cause a neurodevelopmental disorder through haploinsufficie…

Genetic background shapes how human cells proliferate and respond to environmental stress. Using pooled, multi-donor human neural progenitor cell villages and the compositional model Townlet, we quantify this variation and identify rare variant-associa…

Genetic background shapes how human cells proliferate and respond to environmental stress. Using pooled, multi-donor human neural progenitor cell villages and the compositional model Townlet, we quantify this variation and identify rare variant-associa…

Polymorphic gene duplications absent from the reference genome can generate spurious trans-eQTLs. Specifically, variants tagging the polymorphic duplicate may masquerade as trans-eQTLs regulating the reference gene copy. Here, we develop a method to id…

Polymorphic gene duplications absent from the reference genome can generate spurious trans-eQTLs. Specifically, variants tagging the polymorphic duplicate may masquerade as trans-eQTLs regulating the reference gene copy. Here, we develop a method to id…