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The Medical Genome Initiative: Moving Whole-genome Sequencing for Rare Disease Diagnosis to the Clinic

Overview
Journal Genome Med
Publisher Biomed Central
Specialty Genetics
Date 2020 May 29
PMID 32460895
Citations 24
Authors
Christian R Marshall
David Bick
John W Belmont
Stacie L Taylor
Euan Ashley
David Dimmock
Vaidehi Jobanputra
Hutton M Kearney
Shashikant Kulkarni
Heidi Rehm
Affiliations
Soon will be listed here.
Abstract

Clinical whole-genome sequencing (WGS) offers clear diagnostic benefits for patients with rare disease. However, there are barriers to its widespread adoption, including a lack of standards for clinical practice. The Medical Genome Initiative consortium was formed to provide practical guidance and support the development of standards for the use of clinical WGS.

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References
1.
Bick D, Jones M, Taylor S, Taft R, Belmont J . Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases. J Med Genet. 2019; 56(12):783-791. PMC: 6929710. DOI: 10.1136/jmedgenet-2019-106111. View
2.
Ferreira C . The burden of rare diseases. Am J Med Genet A. 2019; 179(6):885-892. DOI: 10.1002/ajmg.a.61124. View
3.
Trosman J, Weldon C, Slavotinek A, Norton M, Douglas M, Phillips K . Perspectives of US private payers on insurance coverage for pediatric and prenatal exome sequencing: Results of a study from the Program in Prenatal and Pediatric Genomic Sequencing (P3EGS). Genet Med. 2019; 22(2):283-291. PMC: 7004856. DOI: 10.1038/s41436-019-0650-7. View
4.
Roy S, Coldren C, Karunamurthy A, Kip N, Klee E, Lincoln S . Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines: A Joint Recommendation of the Association for Molecular Pathology and the College of American Pathologists. J Mol Diagn. 2017; 20(1):4-27. DOI: 10.1016/j.jmoldx.2017.11.003. View
5.
Scocchia A, Wigby K, Masser-Frye D, Del Campo M, Galarreta C, Thorpe E . Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico. NPJ Genom Med. 2019; 4:5. PMC: 6375919. DOI: 10.1038/s41525-018-0076-1. View