genetic risk variants

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Parents who learn of their increased genetic risk of disease also contend with telling their children about theirs, the New York Times writes.

A Brown University-led team demonstrated the utility of its "massively parallel splicing assay," or MaPSy, assay by profiling splice effects for thousands of mutations.

The analysis from Quest Diagnostic researchers compared the cost-effectiveness of a seven-gene panel test to BRCA1 and BRCA2 testing alone in improving life expectancy.

The OncoArray Consortium researchers also uncovered a new candidate susceptibility gene for low-grade and borderline serous epithelial ovarian cancer.

Investigators intend to genotype the biorepository using Illumina arrays with the aim of identifying markers that can be used to inform treatment and prevention efforts.

Epidemiological clues and genotyping data from tens of thousands of individuals with or without Alzheimer's led to an age-specific polygenic risk score.

Using extensive genetic data from an Icelandic population, researchers identified two rare variants associated with osteoarthritis and related hip replacements.

An exome-wide association study involving almost 2,800 individuals with dilated cardiomyopathy led to six new and two known susceptibility loci.

An NHGRI-led team found a variant in the SEMA4D gene that was present in people of African descent, but not in people of Asian or European ancestry.

This Week in PNAS

In PNAS this week: SERPINA1 gene variant linked to stroke risk, comparative genomic analysis of cyanobacteria, and more.

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Vivek Murthy is no longer the surgeon general of the US, the Associated Press reports.

People around the globe took to the streets to support science — some with signs.

Parents who learn of their increased genetic risk of disease also contend with telling their children about theirs, the New York Times writes.

In PLOS this week: loci linked to body mass index measurements, long non-coding RNA expression and urothelial carcinoma prognosis, and more.