publication . Article . Other literature type . 2012

Family-Based Association Studies for Next-Generation Sequencing

Zhu, Yun; Xiong, Momiao;
Open Access
  • Published: 08 Jun 2012 Journal: The American Journal of Human Genetics, volume 90, issue 6, pages 1,028-1,045 (issn: 0002-9297, Copyright policy)
  • Publisher: Elsevier BV
Abstract
An individual's disease risk is determined by the compounded action of both common variants, inherited from remote ancestors, that segregated within the population and rare variants, inherited from recent ancestors, that segregated mainly within pedigrees. Next-generation sequencing (NGS) technologies generate high-dimensional data that allow a nearly complete evaluation of genetic variation. Despite their promise, NGS technologies also suffer from remarkable limitations: high error rates, enrichment of rare variants, and a large proportion of missing values, as well as the fact that most current analytical methods are designed for population-based association s...
Subjects
free text keywords: Genetics(clinical), Genetics, Article, Pedigree chart, Genome-wide association study, Missing data, p-value, Statistic, Biology, Genetic association, Type I and type II errors, Population, education.field_of_study, education
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