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Integrating next‐generation sequencing into the diagnostic testing of inherited cancer predisposition
Author(s) -
Ku CS,
Cooper DN,
Iacopetta B,
Roukos DH
Publication year - 2013
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12028
Subject(s) - dna sequencing , computational biology , biology , genetics , genetic testing , bioinformatics , gene
The clinical application of next‐generation sequencing ( NGS ) as a diagnostic tool has become increasingly evident. The coupling of NGS technologies with new genomic sequence enrichment methods has made the sequencing of panels of target genes technically feasible, at the same time as making such an approach cost‐effective for diagnostic applications. In this article, we discuss recent studies that have applied NGS in the diagnostic setting in relation to hereditary cancer.