Open AccessClinical Massively Parallel Sequencing
Author(s) -
Ge Gao,
Jeremy C. Smith
Publication year - 2019
Publication title -
clinical chemistry
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 1.705
H-Index - 218
eISSN - 1530-8561
pISSN - 0009-9147
DOI - 10.1373/clinchem.2019.303305
Subject(s) - dna sequencing , massive parallel sequencing , exome sequencing , genome , computational biology , whole genome sequencing , biology , hybrid genome assembly , exome , genetics , massively parallel , metagenomics , genomics , dna , gene , computer science , mutation , parallel computing
The newest advances in DNA sequencing are based on technologies that perform massively parallel sequencing (MPS). Since 2006, the output from MPS platforms has increased from 20 Mb to >7 Tb. First-generation MPS platforms amplify individual DNA molecules to multiple copies and then interrogate the sequence of those molecules. Second-generation MPS analyzes single unamplified molecules to generate much longer sequence reads but with less output than first-generation MPS and lower first-pass accuracy. With MPS technologies, it is now possible to analyze genomes, exomes, a defined subset of genes, transcriptomes, and even methylation across the genome. These technologies have and will continue to completely transform the clinical practice.
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