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Genome sequencing as a diagnostic test.

Authors :
Costain, Gregory
Cohn, Ronald D.
Scherer, Stephen W.
Marshall, Christian R.
Source :
Canadian Medical Association Journal (CMAJ). 10/25/2021, Vol. 193 Issue 42, pE1626-E1629. 4p. 1 Color Photograph.
Publication Year :
2021

Abstract

Genome sequencing (or whole genome sequencing) is a comprehensive test capable of detecting nearly all DNA variation in a genome. Next-generation sequencing gene panel test: a targeted test focusing on a predefined list of genes that typically detects only exonic sequence-level variants and exon-level deletions or duplications in those genes. Genome sequencing is a comprehensive genetic test that is being integrated into health care systems internationally. For these reasons, genome sequencing will likely eventually supplant exome sequencing, large next-generation sequencing gene panel tests and chromosomal microarray analysis. [Extracted from the article]

Details

Language :
English
Volume :
193
Issue :
42
Database :
Academic Search Index
Journal :
Canadian Medical Association Journal (CMAJ)
Publication Type :
Academic Journal
Accession number :
153347525
Full Text :
https://doi.org/10.1503/cmaj.210549