Genetic Epidemiology, Psychiatric Genetics, Asthma Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
23762362
TITLE
Case-control association testing of common variants from sequencing of DNA pools.
ABSTRACT
While genome-wide association studies (GWAS) have been successful in identifying a large number of variants associated with disease, the challenge of locating the underlying causal loci remains. Sequencing of case and control DNA pools provides an inexpensive method for assessing all variation in a genomic region surrounding a significant GWAS result. However, individual variants need to be ranked in terms of the strength of their association to disease in order to prioritise follow-up by individual genotyping. A simple method for testing for case-control association in sequence data from DNA pools is presented that allows the partitioning of the variance in allele frequency estimates into components due to the sampling of chromosomes from the pool during sequencing, sampling individuals from the population and unequal contribution from individuals during pool construction. The utility of this method is demonstrated on a sequence from the alcohol dehydrogenase (ADH) gene cluster on a case-control sample for heavy alcohol consumption.
DATE PUBLISHED
2013
HISTORY
PUBSTATUS PUBSTATUSDATE
ppublish 2013
received 2013/01/15
accepted 2013/04/25
epublish 2013/06/07
entrez 2013/06/14 06:00
pubmed 2013/06/14 06:00
medline 2014/01/23 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
McRae AF McRae Allan F AF University of Queensland Diamantina Institute, Brisbane, Australia. a.mcrae@uq.edu.au
Richter MM Richter Melinda M MM
Lind PA Lind Penelope A PA
INVESTIGATORS
JOURNAL
VOLUME: 8
ISSUE: 6
TITLE: PloS one
ISOABBREVIATION: PLoS ONE
YEAR: 2013
MONTH:
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1932-6203
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: PLoS One
COUNTRY: United States
ISSNLINKING: 1932-6203
NLMUNIQUEID: 101285081
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, Non-U.S. Gov't
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
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GRANTS
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Case-Control Studies
DNA genetics
Gene Frequency genetics
Genetic Association Studies methods
Genome-Wide Association Study methods
Humans methods
Polymorphism, Single Nucleotide genetics
Sequence Analysis, DNA genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
9007-49-2 DNA
OTHER ID's
OTHERID SOURCE
PMC3676437 NLM