publication . Article . Other literature type . 2012

The role of large pedigrees in an era of high-throughput sequencing

Wijsman, Ellen M.;
Open Access
  • Published: 20 Jun 2012 Journal: Human Genetics, volume 131, pages 1,555-1,563 (issn: 0340-6717, eissn: 1432-1203, Copyright policy)
  • Publisher: Springer Science and Business Media LLC
Abstract
Rare variation is the current frontier in human genetics. The large pedigree design is practical, efficient, and well-suited for investigating rare variation. In large pedigrees, specific rare variants that co-segregate with a trait will occur in sufficient numbers so that effects can be measured, and evidence for association can be evaluated, by making use of methods that fully use the pedigree information. Evidence from linkage analysis can focus investigation, both reducing the multiple testing burden and expanding the variants that can be evaluated and followed up, as recent studies have shown. The large pedigree design requires only a small fraction of the ...
Subjects
free text keywords: Genetics(clinical), Genetics, Trait, Pedigree chart, Sample size determination, Human genetics, DNA sequencing, Genome Scan, Population, education.field_of_study, education, Multiple comparisons problem, Biology, Article
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