Uncovering Missing Heritability in Rare Diseases
نویسندگان
چکیده
منابع مشابه
Searching for missing heritability: designing rare variant association studies.
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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Pharmacogenomic biomarkers can optimize an individual’s therapy; however, the overall role of genetic factors in drug response remains uncertain. The majority of genetic variants currently used as clinical pharmacogenomic biomarkers affect drug metabolism and transport, while fewer biomarkers accurately predict drug response (pharmacodynamics). This article evaluates heritable aspects of drug t...
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Human genetics has been haunted by the mystery of "missing heritability" of common traits. Although studies have discovered >1,200 variants associated with common diseases and traits, these variants typically appear to explain only a minority of the heritability. The proportion of heritability explained by a set of variants is the ratio of (i) the heritability due to these variants (numerator),...
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To evaluate the performance of prediction of missing links, the known data are randomly divided into two parts, the training set and the probe set. We argue that this straightforward and standard method may lead to terrible bias, since in real biological and information networks, missing links are more likely to be links connecting low-degree nodes. We therefore study how to uncover missing lin...
متن کاملFinding 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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ژورنال
عنوان ژورنال: Genes
سال: 2019
ISSN: 2073-4425
DOI: 10.3390/genes10040275