Pi-Chuan Chang

Google Inc.

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Scholarly Papers (1)

1.

A Robust Benchmark for Detecting Low-Frequency Variants in the HG002 Genome in a Bottle NIST Reference Material

Number of pages: 30 Posted: 16 Dec 2024
Medical Device Innovation Consortium (MDIC), Medical Device Innovation Consortium (MDIC), Government of the United States of America - National Institute of Standards and Technology (NIST), Government of the United States of America - National Institute of Standards and Technology (NIST), Technology and Renewable Energy Institute, Technology and Renewable Energy Institute, Technology and Renewable Energy Institute, Technology and Renewable Energy Institute, Technology and Renewable Energy Institute, Children's Mercy Kansas City, Roche Sequencing Solutions, Illumina, Inc., Illumina, Inc., Illumina, Inc., Illumina, Inc., Illumina, Inc., Illumina, Inc., Illumina, Inc., Illumina, Inc., Illumina, Inc., Google Inc., Google Inc., Google Inc., Google Inc., Google Inc., Google Inc., University of California, Los Angeles (UCLA) - Department of Human Genetics, University of California, Los Angeles (UCLA) - Department of Human Genetics, University of California, Los Angeles (UCLA) - Department of Human Genetics, University of California, Los Angeles (UCLA) - Department of Human Genetics, Cornell University - Weill Cornell Medicine, Cornell University - Weill Cornell Medicine, Weill Cornell Medicine - Department of Physiology, Biophysics, and Systems Biology, Element Biosciences, Inc., Element Biosciences, Inc., Element Biosciences, Inc., Government of the United States of America - National Institute of Standards and Technology (NIST), Government of the United States of America - National Institute of Standards and Technology (NIST) and Independent
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Abstract:

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Somatic mosaicism, variant calling, mosaic variant, somatic variant, SNV, genome sequencing, benchmarking, genome in a bottle