EX-HOM (EXome HOMozygosity): A Proof of Principle | Zendy

Tommaso Pippucci | Zendy; Matteo Benelli | Zendy; Alberto Magi | Zendy; Pier Luigi Martelli | Zendy; Pamela Magini | Zendy; Francesca Torricelli | Zendy; Rita Casadio | Zendy; Marco Seri | Zendy; Giovanni Romeo | Zendy

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EX-HOM (EXome HOMozygosity): A Proof of Principle

Author(s) -

Tommaso Pippucci,

Matteo Benelli,

Alberto Magi,

Pier Luigi Martelli,

Pamela Magini,

Francesca Torricelli,

Rita Casadio,

Marco Seri,

Giovanni Romeo

Publication year - 2011

Publication title -

human heredity

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.423

H-Index - 62

eISSN - 1423-0062

pISSN - 0001-5652

DOI - 10.1159/000330164

Subject(s) - disease gene identification , exome sequencing , genetics , runs of homozygosity , pedigree chart , exome , candidate gene , biology , snp array , mutation , gene , single nucleotide polymorphism , genotype

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.

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