Finding the Rare Pathogenic Variants in a Human Genome
JAMA
.
2017 May 9;317(18):1904-1905.
doi: 10.1001/jama.2017.0432.
Authors
James P Evans
1
,
Bradford C Powell
2
,
Jonathan S Berg
2
Affiliations
1
Department of Genetics, University of North Carolina at Chapel Hill2Department of Medicine, University of North Carolina at Chapel Hill.
2
Department of Genetics, University of North Carolina at Chapel Hill.
PMID:
28492888
DOI:
10.1001/jama.2017.0432
No abstract available
MeSH terms
Cost-Benefit Analysis
Genetic Variation*
Genome, Human
Genotype
Healthy Volunteers
High-Throughput Nucleotide Sequencing*
Humans
Mass Screening
Mutation*
Penetrance
Polymorphism, Single Nucleotide
Precision Medicine