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Clinical diagnostics

News and Updates

Projects and Programs

Genome in a Bottle

Ongoing
Consortium hosted by NIST dedicated to authoritative characterization of benchmark human genomes. Sign up for General GIAB and Analysis Team email lists. Public

Standards for Metagenomics

Ongoing
Metagenomics, or identifying the organisms present in a sample through DNA-based analysis, is a revolutionary technology made possible through advances in

Publications

Health Assessment Measurements Quality Assurance Program: Exercise 7 Final Report

Author(s)
Chuck Barber, Carolyn Burdette, Hugh Hayes, Monique Johnson, Shaun Kotoski, Jacolin Murray, Melissa M. Phillips, Kate Rimmer, Andrea Yarberry, Laura J. Wood
The Health Assessment Measurements Quality Assurance Program (HAMQAP) was launched in collaboration with the National Institutes of Health (NIH) Office of

Benchmarking challenging small variants with linked and long reads

Author(s)
Justin Wagner, Nathanael David Olson, Lindsay Harris, Marc L. Salit, Fritz Sedlazeck, Chunlin Xiao, Justin Zook
Genome in a Bottle benchmarks are widely used to help validate clinical sequencing pipelines and develop variant calling and sequencing methods. Here we use

Software