Using Affected Sib-Pairs to Uncover Rare Disease Variants
Using Affected Sib-Pairs to Uncover Rare Disease Variants
About this item
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Author / Creator
Publisher
Basel, Switzerland: S. Karger AG
Journal title
Language
English
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Publication information
Publisher
Basel, Switzerland: S. Karger AG
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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
Author / Creator
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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