Etiqueta: AmJHumGenet

We show that bi-allelic variants in the minor spliceosome snRNAs RNU6ATAC and RNU4ATAC cause early-onset autoimmune diabetes with immune dysregulation. We define a shared mechanism involving U12 intron retention and impaired B cell development, expandi…

Bartell et al. identify variation at hundreds of genetic loci that are associated with the sitting height ratio, a measurement of body proportion. Many are distinct from genetic associations with height. Additionally, a small number of these genetic si…

Aligning and calling variants in a way that accounts for the sex chromosome complement of the sample will reduce false-positive variants and increase true-positive variants on the X and Y chromosomes.

Selective homolog silencing (with XIST) provides an approach to study polymorphisms in cells from one individual, complementing population-level studies. In trisomy 21 iPSCs, primarily only one specific homolog transcribed RWDD2B, which is linked to po…

We quantify inclusion bias in a health-system-linked biobank using classification models to distinguish enrolled individuals from the background population. To evaluate its impact on genetic findings observed in biobanks, we reweight analyses by enroll…

This article is based on the address given by the author at the 2025 meeting of The American Society of Human Genetics (ASHG) in Boston, MA. A video of the original address can be found at the ASHG website.

This article is based on the address given by the author at the 2025 meeting of The American Society of Human Genetics (ASHG) in Boston, MA. A video of the original address can be found at the ASHG website.

This article is based on the address given by the author at the 2025 meeting of the American Society of Human Genetics (ASHG) in Boston, MA. A video of the address can be found on the ASHG website.

This article is based on the address given by the author at the 2025 meeting of The American Society of Human Genetics (ASHG) in Boston, MA. A video of the original address can be found at the ASHG website.

We demonstrate that differences between populations can lead to biased causal effect estimates in Mendelian randomization (MR), a causal inference method based on genetic data. We provide a broad empirical survey of the size of these biases, demonstrat…