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Using Affected Sib-Pairs to Uncover Rare Disease Variants

Using Affected Sib-Pairs to Uncover Rare Disease Varian...

Using Affected Sib-Pairs to Uncover Rare Disease Variants

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_1365662322

Using Affected Sib-Pairs to Uncover Rare Disease Variants

About this item

Full title

Using Affected Sib-Pairs to Uncover Rare Disease Variants

Publisher

Basel, Switzerland: S. Karger AG

Journal title

Human heredity, 2012-01, Vol.74 (3/4), p.129-141

Language

English

Formats

Publication information

Publisher

Basel, Switzerland: S. Karger AG

More information

Scope and Contents

Contents

Objective: 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...

Alternative Titles

Full title

Using Affected Sib-Pairs to Uncover Rare Disease Variants

Authors, Artists and Contributors

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_journals_1365662322

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_1365662322

Other Identifiers

ISBN

3318023809,9783318023800

ISSN

0001-5652

E-ISSN

1423-0062

DOI

10.1159/000346788

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