publication . Article . 2016

Incorporating ENCODE information into association analysis of whole genome sequencing data

Taebeom Kim; Peng Wei;
Open Access English
  • Published: 01 Oct 2016 Journal: BMC Proceedings, volume 10, issue Suppl 7, pages 257-261 (eissn: 1753-6561, Copyright policy)
  • Publisher: BioMed Central
Abstract
With the rapidly decreasing cost of the next-generation sequencing technology, a large number of whole genome sequences have been generated, enabling researchers to survey rare variants in the protein-coding and regulatory regions of the genome. However, it remains a daunting task to identify functional variants associated with complex diseases from whole genome sequencing (WGS) data because of the millions of candidate variants and yet moderate sample size. We propose to incorporate the Encyclopedia of DNA Elements (ENCODE) information in the association analysis of WGS data to boost the statistical power. We use the RegulomeDB and PolyPhen2 scores as external ...
Subjects
free text keywords: Proceedings, Whole genome sequencing, ENCODE, Locus (genetics), Genetics, Genetic association, Gene, Genome, Nonsynonymous substitution, Bioinformatics, Exome sequencing, Biology
Funded by
NIH| Genetic Susceptibility and Risk Model for Pancreatic Cancer
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 4R01CA169122-04
  • Funding stream: NATIONAL CANCER INSTITUTE
,
NIH| Genetic Analysis of Common Diseases: An Evaluation
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5R01GM031575-22
  • Funding stream: NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES
,
NIH| Association analysis of rare variants with sequencing data
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5R01HL116720-05
  • Funding stream: NATIONAL HEART, LUNG, AND BLOOD INSTITUTE
,
NIH| Genome-wide gene-by-smoking interaction analysis of pulmonary function
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 1R21HL126032-01
  • Funding stream: NATIONAL HEART, LUNG, AND BLOOD INSTITUTE
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