Finding the Sources of Missing Heritability within Rare Variants Through Simulation
نویسندگان
چکیده
منابع مشابه
Finding the Sources of Missing Heritability within Rare Variants Through Simulation
Thousands of genome-wide association studies (GWAS) have been conducted to identify the genetic variants associated with complex disorders. However, only a small proportion of phenotypic variances can be explained by the reported variants. Moreover, many GWAS failed to identify genetic variants associated with disorders displaying hereditary features. The "missing heritability" problem can be p...
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Genome-wide association studies (GWASs), also called common variant association studies (CVASs), have uncovered thousands of genetic variants associated with hundreds of diseases. However, the variants that reach statistical significance typically explain only a small fraction of the heritability. One explanation for the "missing heritability" is that there are many additional disease-associate...
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Genetic studies have revealed thousands of loci predisposing to hundreds of human diseases and traits, revealing important biological pathways and defining novel therapeutic hypotheses. However, the genes discovered to date typically explain less than half of the apparent heritability. Because efforts have largely focused on common genetic variants, one hypothesis is that much of the missing he...
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Genome-wide significant associations generally explain only a small proportion of the narrow-sense heritability of complex disease (h). While considerably more heritability is explained by all genotyped SNPs (hg ), for most traits, much heritability remains missing (hg 2 < h). Rare variants, poorly tagged by genotyped SNPs, are a major potential source of the gap between hg 2 and h. Recent effo...
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In less than 5 years, genomewide association studies (GWASs) have completely changed the landscape of human genetic research. Our increasing knowledge of the human genome sequence and its variation (http:// hapmap.ncbi.nlm.nih.gov/) and technological advances in the design of genotyping microarrays have been instrumental in this evolution; however, an essential factor for success has been the u...
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ژورنال
عنوان ژورنال: Bioinformatics and Biology Insights
سال: 2017
ISSN: 1177-9322,1177-9322
DOI: 10.1177/1177932217735096