Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions.
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ABSTRACT:
SUBMITTER: Nuttle X
PROVIDER: S-EPMC3985568 | biostudies-literature | 2013 Sep
REPOSITORIES: biostudies-literature
Publications
Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions.
Nuttle Xander X Huddleston John J O'Roak Brian J BJ Antonacci Francesca F Fichera Marco M Romano Corrado C Shendure Jay J Eichler Evan E EE
Nature methods 20130728 9
Over 900 genes have been annotated within duplicated regions of the human genome, yet their functions and potential roles in disease remain largely unknown. One major obstacle has been the inability to accurately and comprehensively assay genetic variation for these genes in a high-throughput manner. We developed a sequencing-based method for rapid and high-throughput genotyping of duplicated genes using molecular inversion probes designed to target unique paralogous sequence variants. We applie ...[more]
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