Etiqueta: AmJHumGenet

We developed an automated, reproducible, and scalable workflow to perform scans for disproportionate identity-by-descent sharing between cases and controls, determining well-controlled significance levels by modeling correlations along the genome. When…

Two different 4-base-pair deletions in SMN1 that cause a similar frameshift led to false-positive SMA newborn screening results. Integrating genomic, functional, and population data clarified diagnosis, preventing unnecessary treatment, and demonstrate…

Rare mutations in PTEN, DISP1, SCUBE2, and FA2H were associated with changes in brain volume. Mutations in these genes have been linked with severe brain disorders. These findings suggest that these genes are relevant for neurodevelopment and that less…

(The American Journal of Human Genetics 112, 2625–2642; November 6, 2025)

To inform vascular disease processes attributable to alternative splicing, we modeled inflammation in endothelial cell lines. We found that alternative promoters were key regulators of transcript diversity, especially for metabolic genes. Using sQTL ma…

This investigation demonstrates the validity and high predictive ability of a prostate cancer polygenic risk score (PRS) across populations in the All of Us Research Program. It further demonstrates that PRS performance varies by certain demographic-, …

We performed chromatin accessibility quantitative trait locus (caQTL) mapping in 175 healthy human liver samples and identified 14,076 caQTLs. These data, along with other regulatory mechanism datasets, were integrated with liver-relevant genome-wide a…

Mendelian randomization (MR) is widely used to identify causality between human traits; however, it suffers from high error rates. Van der Graaf et al. benchmark MR using human metabolic networks to understand MR’s failure modes. Extensive biological f…

The current biotechnology industry is characterized by intense competition. Although this competition can drive innovation and increased investment, too much competition can prevent collaboration and potentially foster a culture in which data and metho…

Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome. A zebrafish jkamp knockout recapitulates key disease features. Functional studies show that JKAMP deficiency impairs folding and trafficking of the brain-enriched orphan…