cardiomyopathy

The companies intend to study de-identified, population-scale phenotypic and genotypic data to gain unique insights that may support the broader HCM ecosystem.

The study identified four variants in BAG3 that almost only occurred in African Americans and were associated with a nearly twofold increase in cardiac events.

The Garvan team has shown that whole-genome sequencing can diagnose more cases than targeted panels and is now demonstrating its cost-effectiveness.

Cases with genome and family history reports and controls with family history reports alone had comparable healthcare costs during the six months after receiving their reports.

Detection of pathogenic or likely pathogenic variants implicated in cardiomyopathy declines in individuals with self-reported ancestry from under-studied populations.

Retraction Watch reports that Nature has added an editor's note to a paper describing the correction of a pathogenic mutation in human embryos.

In Genome Biology this week: computational approach for analyzing noisy single-cell sequencing profiles, eQTLs of dilated cardiomyopathy, and more.

Testing for Relief

Minneapolis-St. Paul's KARE tells the story of a woman who'd thought she'd dodged genetic hypertrophic cardiomyopathy and sought testing for her children.

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

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

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A genome-wide association study highlights a potential role for hair follicles in acne risk, according to New Scientist.

Newsday reports that breast cancer genetic testing guidelines for are out of date and may miss individuals.

In Cell this week: gene editing-based strategy to screen for immune system regulators, ancient plague patterns, and more.

Publication of He Jiankui's work on gene-edited infants would raise ethical concerns for journals, Wired and others report.