genetic risk variants

Breast cancer risk in carriers of pathogenic CHEK2 variants may be classified as low, moderate, or high by adding in polygenic risk score and family history data.

The researchers noted that using Korea1K as a reference resulted in better imputation accuracy for Koreans than the 1000 Genomes dataset.

A genome-wide association study on hundreds of thousands of women with or without breast cancer implicated 32 new risk loci, including sites associated with specific subtypes.

A GWAS that incorporated magnetic resonance imaging data for UK Biobank participants led to 45 previously undetected risk loci related to dilated cardiomyopathy.

With genome sequences for nearly 900 individuals with primary immunodeficiency, researchers identified candidate genes and common variant contributors.

Researchers investigated how well four polygenic risk scores for coronary heart disease performed in three racial or ethnic groups in the US.

Alcohol use in combination with ALDH2 mutations or germline changes in the CDH1 gene corresponded to a subset of diffuse-type gastric cancer cases in East Asian individuals.

With UK Biobank and FinnGenn data, researchers tracked down rare changes in the angiopoietin-like 7 gene that coincide with lower glaucoma and intraocular pressure risk.