Open AccessSystematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants
Author(s) -
T. Beck,
James C. Mullikin,
the NISC Comparative Sequencing Program,
Leslie G Biesecker
Publication year - 2016
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.2015.249623
Subject(s) - sanger sequencing , dna sequencing , computational biology , exome sequencing , biology , genetics , gene , mutation
Next-generation sequencing (NGS) data are used for both clinical care and clinical research. DNA sequence variants identified using NGS are often returned to patients/participants as part of clinical or research protocols. The current standard of care is to validate NGS variants using Sanger sequencing, which is costly and time-consuming.
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