An analysis of naturally occurring alleles in the lipoprotein lipase pathway found that they and LDL-C-linked alleles affect disease risk independently.
Researchers used fine mapping and other approaches to prioritize proposed coding and non-coding causal variants at rheumatoid arthritis- and type 1 diabetes-linked loci.
One of the variants leads to increased phosphorylation of a signaling pathway as well as to increased cell proliferation, hinting at how it contributes to disease risk.
Starting in early 2019, Yale plans to sign up at least 100,000 patients to analyze their genomes and EHR data for research and return of clinically actionable results.
A meta-analysis involving 16,595 women with leiomyoma and 523,330 without led to 16 associated loci related to both tumorigenesis and estrogen-related traits.
Franklin, an AI-driven variant classification tool, is helping Sanford Imagenetics reduce variants of unknown significance in its new ACMG-59 genotyping test.
Yahoo News reports millions of dollars are being transferred from NIH, CDC, and other programs to pay for the housing of detained undocumented immigrant children.
