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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.
Medical Genome Initiative Develops Best Practices, Standards for Clinical Whole-Genome Sequencing
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The nine-institute organization, founded by Illumina, recently issued guidelines for the interpretation and reporting of clinical whole-genome sequencing tests.
The GA4K program, run by Children's Mercy Research Institute, aims to build a testing framework for pediatric patients with undiagnosed rare disease.
The "matchmaking" service for genetic researchers facilitates a growing list of rare variant research collaborations, with more improvements coming.
Multiple studies are showing that long reads can deliver results where short reads can't, but many barriers remain on the road to the clinic.