Region-based interaction detection in genome-wide case-control studies
نویسندگان
چکیده
منابع مشابه
Experimental designs for robust detection of effects in genome-wide case-control studies.
In genome-wide association studies hundreds of thousands of loci are scanned in thousands of cases and controls, with the goal of identifying genomic loci underpinning disease. This is a challenging statistical problem requiring strong evidence. Only a small proportion of the heritability of common diseases has so far been explained. This "dark matter of the genome" is a subject of much discuss...
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MOTIVATION Collecting millions of genetic variations is feasible with the advanced genotyping technology. With a huge amount of genetic variations data in hand, developing efficient algorithms to carry out the gene-gene interaction analysis in a timely manner has become one of the key problems in genome-wide association studies (GWAS). Boolean operation-based screening and testing (BOOST), a re...
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This chapter is a comprehensive review of quality control (QC) methods for SNP-based genotyping panels used in genome-wide association studies. These include QC on individuals for missingness, gender checks, duplicates and cryptic relatedness, population outliers, heterozygosity and inbreeding, and QC on SNPs for missingness, minor allele frequency and Hardy-Weinberg equilibrium. The emphasis i...
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The complexity of phenotype-genotype mapping are characterised by non-linear interactions between gene-gene and gene-environmental factors. These interaction studies provide better understanding of underlying biological architecture of complex disease traits. A number of statistical and machine learning approaches have been proposed to identify multi-locus interactions between genetic variants ...
متن کاملRobust Gene-Gene Interaction Analysis in Genome Wide Association Studies
Genome-wide association studies (GWAS) have successfully discovered hundreds of associations between genetic variants and complex traits. Most GWAS have focused on the identification of single variants. It has been shown that most of the variants that were discovered by GWAS could only partially explain disease heritability. The explanation for this missing heritability is generally believed to...
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ژورنال
عنوان ژورنال: BMC Medical Genomics
سال: 2019
ISSN: 1755-8794
DOI: 10.1186/s12920-019-0583-7