Using Affected Sib-Pairs to Uncover Rare Disease Variants | Zendy

Hervé Perdry | Zendy; Bertram MüllerMyhsok | Zendy; Françoise ClergetDarpoux | Zendy

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Using Affected Sib-Pairs to Uncover Rare Disease Variants

Author(s) -

Hervé Perdry,

Bertram MüllerMyhsok,

Françoise ClergetDarpoux

Publication year - 2012

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 - 10.1159/000346788

Subject(s) - sample size determination , genetics , identity by descent , allele , population , linkage (software) , statistics , association test , genetic association , mathematics , biology , medicine , genotype , gene , haplotype , single nucleotide polymorphism , environmental health

We propose a new test for rare variant mapping, based on an affected sib-pair sample and a control sample. In each sib-pair, only the index case needs to be sequenced, and the number of alleles shared identical-by-descent between the sibs is used as complementary information. The test makes use of both association and linkage information. We compare this test to the Armitage test on case-control data, with cases either from the general population of cases or from a sample of cases having an affected sib.

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