genetic risk variants

Two speakers at the National Society of Genetic Counselors annual meeting discussed how often genetic variants are reclassified and how that affects patients.

Additional studies and reanalyses can reclassify variants of unknown significance, speakers at the National Society of Genetic Counselors meeting said.

Investigators compared RNA sequence data in heart samples from individuals with dilated cardiomyopathy and samples from healthy transplant donor hearts.

Beyond BRCA

Mutations in other genes like PALB2 also confer breast cancer risk, the Philadelphia Inquirer writes.

Variants in and around inflammation-related gene CD53 were linked to TB in older Thai individuals infected with certain Mycobacterium tuberculosis lineages.

A new genome-wide association study involving data from thousands of 23andMe customers implicated six loci in gestational duration or preterm birth risk.

More than 200 bone mineral density-linked loci turned up using data for over 140,000 individuals, including 153 new loci.

Data from several large cohorts suggests that a variant in LILRB5 may produce a propensity for muscle pain or myalgia, upping the risk of statin intolerance.

Variants in CETP-inhibitor and statin target genes helped investigators untangle complex ties between low-density lipoprotein levels and cardiovascular events.

Investigators identified ties between autism spectrum disorder and mitochondrial haplogroups in mtDNA variant data from nearly 1,000 ASD-affected families.

Pages

A former Synthetic Genomics attorney alleges that the firm discriminated against her and other female employees, according to the San Diego Union-Tribune.

Due to privacy and lab certification questions, the planned giveaway of Orig3n testing kits at a Baltimore Ravens game was suspended.

Alnylam reports positive results from its phase 3 clinical trial of an RNAi-based drug, according to Stat News.

In Cell this week: adult mesenchymal cell populations in mouse lung, genetic diversity in HPV16 and cancer risk protection, and more.