Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease.
Context.--With the decrease in the cost of sequencing, the clinical testing paradigm has shifted from single gene to gene panel and now whole-exome and whole-genome sequencing. Clinical laboratories are rapidly implementing next-generation sequencing--based whole-exome and whole-genome sequencing. B...
| Publicado en: | Archives of Pathology & Laboratory Medicine Vol. 141; no. 6; pp. 798 - 806 |
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| Autores principales: | , , , , , |
| Formato: | tables/charts Journal Article |
| Publicado: |
College of American Pathologists
Jun2017
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=123400136&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 123400136 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 00039985 1FS jtl: Archives of Pathology & Laboratory Medicine issn: 00039985 maglogo: N pubinfo: dt: Jun2017 vid: 141 iid: 6 pid: 2550 pub: College of American Pathologists place: Northfield, Illinois artinfo: ui: 123400136 123400136 123400136 10.5858/arpa.2016-0622-RA 123400136 ppf: 798 ppct: 8 formats: fmt: @attributes: type: P tig: atl: Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease. aug: au: Hegde, Madhuri Santani, Avni Mao, Rong Ferreira-Gonzalez, Andrea Weck, Karen E. Voelkerding, Karl V. affil: Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia sug: subj: Genome Sequence Analysis Hereditary Diseases Physiopathology Human Validation Studies Molecular Biology Clinical Laboratories Phenotype Biological Assay Reports Bioinformatics Quality Assurance Pedigree Genetic Screening ab: Context.--With the decrease in the cost of sequencing, the clinical testing paradigm has shifted from single gene to gene panel and now whole-exome and whole-genome sequencing. Clinical laboratories are rapidly implementing next-generation sequencing--based whole-exome and whole-genome sequencing. Because a large number of targets are covered by whole-exome and whole-genome sequencing, it is critical that a laboratory perform appropriate validation studies, develop a quality assurance and quality control program, and participate in proficiency testing. Objective.--To provide recommendations for wholeexome and whole-genome sequencing assay design, validation, and implementation for the detection of germline variants associated in inherited disorders. Data Sources.--An example of trio sequencing, filtration and annotation of variants, and phenotypic consideration to arrive at clinical diagnosis is discussed. Conclusions.--It is critical that clinical laboratories planning to implement whole-exome and whole-genome sequencing design and validate the assay to specifications and ensure adequate performance prior to implementation. Test design specifications, including variant filtering and annotation, phenotypic consideration, guidance on consenting options, and reporting of incidental findings, are provided. These are important steps a laboratory must take to validate and implement whole-exome and wholegenome sequencing in a clinical setting for germline variants in inherited disorders. pubtype: Academic Journal doctype: tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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