Polygenic inheritance, GWAS, polygenic risk scores, and the search for functional variants
نویسندگان
چکیده
منابع مشابه
Genetic drift and polygenic inheritance.
The interaction of random gene drift and selection was studied by computer simulation for two quantitative traits, which were considered to approximate stature and skin color dlfferences in human populations. The expected effects of gene drift, fixation of alleles and reduction of genotypic and phenotypic variances, were found in the simulation. Stabilizing selection, which seems to be the type...
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Methods for genetic risk prediction have been widely investigated in recent years. However, most available training data involves European samples, and it is currently unclear how to accurately predict disease risk in other populations. Previous studies have used either training data from European samples in large sample size or training data from the target population in small sample size, but...
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Polygenic scores have recently been used to summarise genetic effects among an ensemble of markers that do not individually achieve significance in a large-scale association study. Markers are selected using an initial training sample and used to construct a score in an independent replication sample by forming the weighted sum of associated alleles within each subject. Association between a tr...
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Inheritance is the process where genetic information is transferred from the parent to offspring. The information that is transferred is stored in genes, which are Deoxyribose Nucleic Acid (DNA)fragments that codes for specific proteins that are functional and could be transferred. Each gene consists of a pair of alleles that determine the character and as Mendelian Genetics suggests, these all...
متن کاملModeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores.
Polygenic risk scores have shown great promise in predicting complex disease risk and will become more accurate as training sample sizes increase. The standard approach for calculating risk scores involves linkage disequilibrium (LD)-based marker pruning and applying a p value threshold to association statistics, but this discards information and can reduce predictive accuracy. We introduce LDp...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 2020
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.2005634117