publication . Article . 2011

Comparison of scoring methods for the detection of causal genes with or without rare variants

Scholz, Markus; Kirsten, Holger;
Open Access English
  • Published: 01 Nov 2011 Journal: BMC Proceedings (issn: 1753-6561, Copyright policy)
  • Publisher: BMC
Abstract
<p>Abstract</p> <p>Rare causal variants are believed to significantly contribute to the genetic basis of common diseases or quantitative traits. Appropriate statistical methods are required to discover the highest possible number of disease-relevant variants in a genome-wide screening study. The publicly available Genetic Analysis Workshop 17 data set consists of 697 individuals and 24,487 genetic variants. It includes a simulated complex disease model with intermediate quantitative phenotypes. We compare four gene-wise scoring methods with respect to ranking of causal genes under variable allele frequency thresholds for collapsing of rare variants and consideri...
Subjects
free text keywords: Medicine, R, Science, Q, Proceedings, General Biochemistry, Genetics and Molecular Biology, General Medicine, Multivariate analysis, Genetic analysis, Lasso (statistics), Gene, Disease, Bioinformatics, Quantitative trait locus, Allele frequency, Ranking, business.industry, business
Funded by
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

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publication . Article . 2011

Comparison of scoring methods for the detection of causal genes with or without rare variants

Scholz, Markus; Kirsten, Holger;