Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes.
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ABSTRACT:
SUBMITTER: Smith KR
PROVIDER: S-EPMC3308048 | biostudies-literature | 2011 Sep
REPOSITORIES: biostudies-literature
Publications
Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes.
Smith Katherine R KR Bromhead Catherine J CJ Hildebrand Michael S MS Shearer A Eliot AE Lockhart Paul J PJ Najmabadi Hossein H Leventer Richard J RJ McGillivray George G Amor David J DJ Smith Richard J RJ Bahlo Melanie M
Genome biology 20110914 9
Many exome sequencing studies of Mendelian disorders fail to optimally exploit family information. Classical genetic linkage analysis is an effective method for eliminating a large fraction of the candidate causal variants discovered, even in small families that lack a unique linkage peak. We demonstrate that accurate genetic linkage mapping can be performed using SNP genotypes extracted from exome data, removing the need for separate array-based genotyping. We provide software to facilitate suc ...[more]
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2007-02-20 | GSE6754 | GEO