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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

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

A complete reference genome improves analysis of human genetic variation

Author(s)
Sergey Aganezov, Stephanie Yan, Daniela Soto, Melanie Kirsche, Samantha Zarate, Justin Wagner, Jennifer McDaniel, Nathanael David Olson, Rajiv McCoy, Megan Dennis, Justin Zook, Michael Schatz
Compared to its predecessors, the Telomere-to-Telomere CHM13 genome adds nearly 200 million base pairs of sequence, corrects thousands of structural errors, and

Software