Distinguishing Variant Pathogenicity From Genetic Diagnosis: How to Know Whether a Variant Causes a Condition
JAMA
.
2018 Nov 13;320(18):1929-1930.
doi: 10.1001/jama.2018.14900.
Authors
Leslie G Biesecker
1
,
Robert L Nussbaum
2
3
,
Heidi L Rehm
4
5
Affiliations
1
Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
2
University of California, San Francisco.
3
Invitae Corp, San Francisco, California.
4
Center for Genomic Medicine, Massachusetts General Hospital, Boston.
5
Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
PMID:
30326012
DOI:
10.1001/jama.2018.14900
No abstract available
MeSH terms
Exome Sequencing
Genetic Diseases, Inborn / diagnosis*
Genetic Diseases, Inborn / genetics
Genetic Testing*
Genetic Variation*
Humans
Sequence Analysis, DNA