Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders.
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ABSTRACT:
SUBMITTER: Brown R
PROVIDER: S-EPMC4795218 | biostudies-literature | 2016 Jan
REPOSITORIES: biostudies-literature
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Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders.
Brown Robert R Lee Hane H Eskin Ascia A Kichaev Gleb G Lohmueller Kirk E KE Reversade Bruno B Nelson Stanley F SF Pasaniuc Bogdan B
European journal of human genetics : EJHG 20150422 1
Recent breakthroughs in exome-sequencing technology have made possible the identification of many causal variants of monogenic disorders. Although extremely powerful when closely related individuals (eg, child and parents) are simultaneously sequenced, sequencing of a single case is often unsuccessful due to the large number of variants that need to be followed up for functional validation. Many approaches filter out common variants above a given frequency threshold (eg, 1%), and then prioritize ...[more]
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