genetic risk variants

At the National Society of Genetic Counselors annual meeting, a number of clinicians said they conduct their own investigations of variants in clinical lab reports.

The researchers hope the datasets from their study can help to explain the effects of disease-associated variants on specific cell types of the immune system.

A Georgia Tech team found that the reliance of genome-wide association studies on European populations has skewed estimates of disease risk in other populations.

GWAS summary statistics data led to three main loci with ties to both Alzheimer's and cardiovascular disease, with additional enrichment at lipid-related sites.

At least some variants associated with benign prostatic hyperplasia appeared to contribute to PSA levels in the blood, independent of prostate cancer.

A re-analysis of genomic tests for 309 children with epilepsy altered diagnoses for more than a third of patients with a previously reported genetic variant.

Given that genetic susceptibility to schizophrenia is highly polygenic, the researchers found that the risk scores had some utility as prognostic biomarkers.

With genome-wide association studies involving more than 200,000 individuals, researchers narrowed in on 58 loci and dozens of genes with ties to a chronic infection marker.

Patients with rare protein-truncating variants tended to have aggressive tumors while those with a high polygenic risk score often had milder disease.

A common variant polygenic risk score, rare cancer risk gene mutations, and prior treatments each provide clues to breast cancer risk in childhood cancer survivors.

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Consulting company McKinsey says diagnostics companies will have to combine genomic data analysis, electronic medical records, effective reimbursement strategies, and regulatory compliance in order to win.

A new report has found that researchers in Africa are still heavily dependent on funding from organizations in the US, Europe, and China, Nature News says.

An article in The Atlantic argues that the progress being made in science isn't keeping pace with the money and time being spent on research.

In Science this week: a CRISPR screen identifies sideroflexin 1 as a requisite component of one-carbon metabolism, and more.