loss of function
Study Finds Genetic Roots of Brown Coloring in Black Bears
With genome sequences from hundreds of American black bears, researchers narrowed in on a loss-of-function TYRP1 variant that is associated with brown fur.
Germline Loss-of-Function Variants in ATM Gene May Contribute to Melanoma Predisposition
Individuals with melanoma were more likely than controls to harbor loss-of-function variants or VUS, according to a newly published study.
Obsessive Compulsive Disorder Exome Analysis Uncovers Contributions From Rare Coding Variants
Exome sequence data from more than 1,300 OCD cases and almost 11,600 controls also revealed a higher load of damaging de novo mutations in male probands.
CRISPR Screen Identifies Host Genes Needed for SARS-CoV-2 Infection, Potential Drug Targets
The screen homed in on a number of genes involved in cholesterol biosynthesis that, when lost, make cells more resistant to infection.
UK Biobank Exomes Reveal Loss-of-Function Variants, Potential Disease Ties
More than 198,000 LOF variants turned up in exome sequences from 49,960 UK Biobank participants, including variants with potential ties to human traits.