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- Title
EX-HOM (EXome HOMozygosity): a proof of principle.
- Authors
Pippucci, Tommaso; Benelli, Matteo; Magi, Alberto; Martelli, Pier Luigi; Magini, Pamela; Torricelli, Francesca; Casadio, Rita; Seri, Marco; Romeo, Giovanni
- Abstract
We provide the proof of principle that exome sequencing of only two affected siblings born to first-cousin parents is capable of directly identifying a single candidate gene for an autosomal recessive disorder. This strategy, which we call EX-HOM (EXome HOMozygosity), combines in a single step the capacity of exome sequencing to identify all the coding variants present in a genome with the property of homozygosity mapping to limit the search for candidate genes to specific chromosomal regions.
- Publication
Human heredity, 2011, Vol 72, Issue 1, p45
- ISSN
1423-0062
- Publication type
Journal Article
- DOI
10.1159/000330164