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Genome in a Bottle Profile picture
Genome in a Bottle
@GenomeInABottle
NIST hosts the Genome in a Bottle Consortium to develop reference materials, reference data, and reference methods needed to benchmark human genome sequencing
Jun 8, 2021 • 5 tweets • 4 min read
We are excited to release a GIAB benchmark for 273 challenging medically relevant genes like SMN1 with @sedlazeck @infoecho and many others, using a hifiasm diploid assembly from @lh3lh3. In the process we identified and corrected false duplication errors in GRCh38 1/n Image We use the new benchmark to demonstrate a solution that improves short read accuracy from 8% to 100% in important genes on GRCh38 (CBS, CRYAA, and KCNE1), working with @GenomeRef to mask 5 GRCh38 false duplications on chr21, building on recent results from @chrisamiller et al 2/n