Etiqueta: AmJHumGenet

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…

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…

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…