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Accurate Whole Genome Sequencing as the Ultimate Genetic Test
Author(s) -
Radoje Drmanac,
Brock A. Peters,
George M. Church,
Clifford A. Reid,
Xun Xu
Publication year - 2014
Publication title -
clinical chemistry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.705
H-Index - 218
eISSN - 1530-8561
pISSN - 0009-9147
DOI - 10.1373/clinchem.2014.224907
Subject(s) - whole genome sequencing , computational biology , test (biology) , genome , biology , genetics , gene , paleontology
Featured Article: Drmanac R, Sparks AB, Callow MJ, Halpern AL, Burns NL, Kermani BG, et al. Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Science 2010;327:78–81.4Even 30 years ago, it was obvious that Sanger sequencing had limited throughput, and a more efficient process could replace many tedious gene and genome mapping projects. It would take until the mid-2000s for massively parallel sequencing (MPS)5 technologies to demonstrate they could overtake the Sanger sequencing hegemony. Our paper was not the first description of a viable MPS technology, but it firmly established that human whole genome sequencing (WGS) could be done affordably (

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