publication . Article . Other literature type . 2014

A Statistical Framework to Guide Sequencing Choices in Pedigrees

Cheung, Charles Y.K.; Marchani Blue, Elizabeth; Wijsman, Ellen M.;
Open Access English
  • Published: 01 Feb 2014 Journal: The American Journal of Human Genetics, issue 2, pages 257-267 (issn: 00029297, Copyright policy)
  • Publisher: The American Society of Human Genetics. Published by Elsevier Inc.
The use of large pedigrees is an effective design for identifying rare functional variants affecting heritable traits. Cost-effective studies using sequence data can be achieved via pedigree-based genotype imputation in which some subjects are sequenced and missing genotypes are inferred on the remaining subjects. Because of high cost, it is important to carefully prioritize subjects for sequencing. Here, we introduce a statistical framework that enables systematic comparison among subject-selection choices for sequencing. We introduce a metric “local coverage,” which allows the use of inferred inheritance vectors to measure genotype-imputation ability specifica...
free text keywords: Article, Genetics(clinical), Genetics, Allele, Prioritization, Biology, Data sequences, Genotype, Region of interest, Pedigree chart, Genotype imputation
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