genetic risk variants

In analyses of multiple traits and diseases, investigators uncovered loss-of-function or truncating changes with apparent protective effects.

Data from almost 19,500 individuals did not show clear ties between a heterozygous mutation in the HBB hemoglobin beta gene and ischemic stroke risk.

St. Jude researchers found germline mutations in the transcription factor gene IKZF1 in 0.9 percent of presumed sporadic pediatric acute lymphoblastic leukemia cases.

The New York Times reports that genetic screening is increasingly offered as an employee benefit.

This Week in PLOS

In PLOS this week: tick salivary transcriptome, genetic risk scores for type 1 diabetes, and more.

Researchers report that even people with a high genetic risk of heart disease benefit from exercise, according to Time magazine.

Using large-scale GWAS data, researchers saw shared genetic contributors for ALS and frontotemporal dementia, as well as ALS and progressive supranuclear palsy.

Using data for thousands of Chinese individuals, researchers saw new and known variants associated with type 2 diabetes, fasting glucose levels, and other metabolic traits.

Researchers detected excess genetic risk and/or misclassification when profiling ClinVar variants in ACMG-59 and OrphaNet genes using genome and exome sequences.

Bit of Concern

The Washington Post notes that some health professional are wary of complex direct-to-consumer genetic testing.

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American scientists find themselves once again warning the Trump administration not to dismiss science, the New Yorker report.

A new study suggests CRISPR could be used to save coral reefs from dying off, Forbes reports.

Researchers have found that the i-motif shape of DNA previously observed in the lab also exists in human cells, and that it may serve a purpose.

In PNAS this week: a genomic, transcriptomic, and metabolomic analysis of the tea plant, Arabidopsis thaliana's adaptations to specific local environments, and more.