ClinSeK: a targeted variant characterization framework for clinical sequencing.
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ABSTRACT:
SUBMITTER: Zhou W
PROVIDER: S-EPMC4410453 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Publications
ClinSeK: a targeted variant characterization framework for clinical sequencing.
Zhou Wanding W Zhao Hao H Chong Zechen Z Mark Routbort J RJ Eterovic Agda K AK Meric-Bernstam Funda F Chen Ken K
Genome medicine 20150331 1
Applying genomics to patient care demands sensitive, unambiguous and rapid characterization of a known set of clinically relevant variants in patients' samples, an objective substantially different from the standard discovery process, in which every base in every sequenced read must be examined. Further, the approach must be sufficiently robust as to be able to detect multiple and potentially rare variants from heterogeneous samples. To meet this critical objective, we developed a novel variant ...[more]
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