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Inherited Disease

News on Mendelian diseases, hereditary cancer, variant classification, cystic fibrosis testing and more.

Blueprint Genetics, recently acquired by Quest Diagnostics in January, will base the 600-gene panel on its whole-exome sequencing capability.

Invitae will provide free genetic testing on a 53-gene panel and counseling to patients suspected of having an LSD to facilitate earlier diagnosis and appropriate treatment.

The insurer will cover testing at the Rady Children's Institute for Genomic Medicine for children in intensive care with unexplained medical conditions.

Public Health England will use the company's Victor EnLite instrument and EnLite Neonatal TREC kit at three of six sites to evaluate screening newborns for "Bubble Boy" disease.

The layoffs occurred across 23andMe's consumer business, which is being restructured, but did not impact its therapeutics business.

New analyses indicate female researchers are publishing less during the coronavirus pandemic than male researchers, according to Nature News.

A study suggests people with the ApoE e4 genotype may be more likely to have severe COVID-19 than those with other genotypes, the Guardian says.

Direct-to-consumer genetic testing companies are searching for a genetic reason for why some people, but not others, become gravely ill with COVID-19, the Detroit Free Press reports.

In PNAS this week: forward genetics-base analysis of retinal development, interactions of T cell receptors with neoantigens in colorectal cancer, and more.