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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.

Results from the PROMPT registry presented at ASCO showed that 10 to 15 percent of women with variants in genes not linked to ovarian cancer had oophorectomies.

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

A genome-wide meta-analysis involving more than 435,000 individuals also linked problematic alcohol use with other substance abuse and psychiatric disorders.

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.

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President Donald Trump announced the US would be leaving the World Health Organization, NBC News reports.

A study of Great Danes homes in on a genomic region linked to fearfulness.

CDC head says a new analysis indicates earlier testing wouldn't have caught viral spread, NPR reports.

In PLOS this week: gene expression and epigenetics of Indonesian populations, hookworm parasite secretome, and more.