Ending the Diagnostic Odyssey-Is Whole-Genome Sequencing the Answer?
JAMA Pediatr
.
2020 Sep 1;174(9):821-822.
doi: 10.1001/jamapediatrics.2020.1522.
Authors
Ann Chen Wu
1
,
Pamela McMahon
1
,
Christine Lu
1
Affiliation
1
Precision Medicine Translational Research (PROMOTER) Center, Harvard Pilgrim Health Care, Department of Population Medicine, Harvard Medical School, Boston, Massachusetts.
PMID:
32597967
PMCID:
PMC7928067
DOI:
10.1001/jamapediatrics.2020.1522
No abstract available
Publication types
Review
MeSH terms
Genetic Testing / methods*
Humans
Rare Diseases / diagnosis*
Rare Diseases / genetics
Whole Genome Sequencing / methods*
Grants and funding
R01 HD090019/HD/NICHD NIH HHS/United States