Genome sequencing as a diagnostic test
Gregory Costain, Ronald D. Cohn, Stephen W. Scherer, Christian R. Marshall
Abstract
KEY POINTS Genetic testing of patient constitutional DNA (i.e., their genome) is increasingly performed in medical practice. [1][1]–[3][2] Sequencing an entire human genome (about 3.2 billion nucleotides) is now possible to complete in days to weeks, and at a similar cost to some advanced imaging
Topics & Concepts
GenomeDNA sequencingHuman genomeGenetic testingWhole genome sequencingTest (biology)Computational biologyPersonal genomicsComputer scienceGeneticsMedicineBioinformaticsBiologyDNAGenePaleontologyGenomics and Rare DiseasesCancer Genomics and DiagnosticsGenetic factors in colorectal cancer