Exome Sequencing and Clinical Diagnosis
Author:
Affiliation:
1. Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
2. Department of Pediatrics, University of California, San Diego
3. Department of Pediatrics, University of Utah Health, Salt Lake City
Publisher
American Medical Association (AMA)
Subject
General Medicine
Link
https://jamanetwork.com/journals/jama/articlepdf/2769138/jama_friedman_2020_vp_200134_1597433051.0185.pdf
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2. Assessing the pathogenicity, penetrance, and expressivity of putative disease-causing variants in a population setting.;Wright;Am J Hum Genet,2019
3. Principles for high-quality, high-value testing.;Power;Evid Based Med,2013
4. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.;Richards;Genet Med,2015
5. Immunoreactive trypsin/DNA newborn screening for cystic fibrosis: should the R117H variant be included in CFTR mutation panels?;Scotet;Pediatrics,2006
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