publication . Article . 2014

imputation in families using a heuristic phasing approach

Blackburn, August N; Dean, Angela K; Lehman, Donna M;
Open Access
  • Published: 01 Jun 2014 Journal: BMC Proceedings, volume 8, page S16 (issn: 1753-6561, Copyright policy)
  • Publisher: Springer Science and Business Media LLC
Abstract
Whole genome sequencing (WGS) remains prohibitively expensive, which has encouraged the development of methods to impute WGS data into nonsequenced individuals using a framework of single nucleotide polymorphisms genotyped for genome-wide association studies (GWAS). Although successful methods have been developed for cohorts of unrelated individuals, current imputation methods in related individuals are limited by pedigree size, by the distance of relationships, or by computation time. In this article, we describe a method for imputation in arbitrarily shaped multigenerational pedigrees that can impute genotypes across distantly related individuals based on iden...
Subjects
free text keywords: General Biochemistry, Genetics and Molecular Biology, General Medicine, Identity by descent, Data mining, computer.software_genre, computer, Computational biology, Genome-wide association study, Imputation (statistics), Heuristic, Whole genome sequencing, Pedigree chart, Single-nucleotide polymorphism, Genetic association, Medicine, business.industry, business, Proceedings
Funded by
NIH| GENETICS OF GALLBLADDER DISEASE IN MEXICAN AMERICANS
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5R01DK053889-04
  • Funding stream: NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES
,
NIH| Identifying variants causal for Type 2 Diabetes in Major human populations
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5U01DK085545-02
  • Funding stream: NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES
,
NIH| Identifying T2D Variants by DNA Sequencing in Multiethnic Samples
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 1U01DK085584-01
  • Funding stream: NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES
,
NIH| Identification and Replication of Type 2 Diabetes Genes in Mexican Americans
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5U01DK085501-02
  • Funding stream: NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES
,
NIH| Discovery of Functional Variants in Type 2 Diabetes Genes in Mexican Americans
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5U01DK085524-05
  • Funding stream: NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES

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