Challenges of Accuracy in Germline Clinical Sequencing Data
JAMA
.
2021 Jul 20;326(3):268-269.
doi: 10.1001/jama.2021.0407.
Authors
Ryan Poplin
1
,
Justin M Zook
2
,
Mark DePristo
3
Affiliations
1
Google Inc, Mountain View, California.
2
Biosystems and Biomaterials Division, National Institute of Standards and Technology, Gaithersburg, Maryland.
3
BigHat Biosciences, San Carlos, California.
PMID:
34283192
PMCID:
PMC9969524
DOI:
10.1001/jama.2021.0407
No abstract available
MeSH terms
Genetic Diseases, Inborn / diagnosis
Genetic Testing / methods*
Genetic Variation*
Genome, Human
Germ Cells*
Germ-Line Mutation
High-Throughput Nucleotide Sequencing*
Humans
Grants and funding
9999-NIST/Intramural NIST DOC/United States