Reanalysis of Clinical Exome Sequencing Data
Open Access
- 20 June 2019
- journal article
- letter
- Published by Massachusetts Medical Society in The New England Journal of Medicine
- Vol. 380 (25), 2478-2480
- https://doi.org/10.1056/nejmc1812033
Abstract
The rapid accrual of knowledge in genomic medicine has prompted the reanalysis of existing data.1,2 We clinically reanalyzed data from two patient series that had undergone diagnostic proband-only exome sequencing.Keywords
Funding Information
- National Institute of Neurological Disorders and Stroke (R35 NS105078)
- National Human Genome Research Institute (K08 HG008986, U54 HG003273, UM1 HG006542)
This publication has 5 references indexed in Scilit:
- Lessons learned from additional research analyses of unsolved clinical exome casesGenome Medicine, 2017
- Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providersGenetics in Medicine, 2017
- Resolution of Disease Phenotypes Resulting from Multilocus Genomic VariationThe New England Journal of Medicine, 2017
- Molecular Findings Among Patients Referred for Clinical Whole-Exome SequencingJAMA, 2014
- Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian DisordersThe New England Journal of Medicine, 2013