Statistical tests for Rare Variants Data Rare Variants in Human Genetic Diseases: Comparison of Association Statistical Tests
نویسندگان
چکیده
منابع مشابه
Associating rare genetic variants with human diseases
Citation: Zhang Q (2015) Associating rare genetic variants with human diseases. Genome researches have revealed that a large portion (over 50%) of genetic variants on human chromosomes are rare variants (RVs) with extremely low allele frequency (usually defined as less than 1%) in populations. In recent years, advances of DNA genotyping and sequencing technologies have been facilitating the dis...
متن کاملRare genetic variant analysis on blood pressure in related samples
The genetic variants associated with blood pressure identified so far explain only a small proportion of the total heritability of this trait. With recent advances in sequencing technology and statistical methodology, it becomes feasible to study the association between blood pressure and rare genetic variants. Using real baseline phenotype data and imputed dosage data from Genetic Analysis Wor...
متن کاملRare Variant Association Testing for Next-Generation Sequencing Data via Hierarchical Clustering
OBJECTIVES It is thought that a proportion of the genetic susceptibility to complex diseases is due to low-frequency and rare variants. Next-generation sequencing in large populations facilitates the detection of rare variant associations to disease risk. In order to achieve adequate power to detect association at low-frequency and rare variants, locus-specific statistical methods are being dev...
متن کاملFast permutation tests and related methods, for association between rare variants and binary outcomes.
In large-scale genetic studies, a primary aim is to test for an association between genetic variants and a disease outcome. The variants of interest are often rare and appear with low frequency among subjects. In this situation, statistical tests based on standard asymptotic results do not adequately control the type I error rate, especially if the case : control ratio is unbalanced. In this ar...
متن کاملDetecting rare variants for quantitative traits using nuclear families.
With the advent of sequencing technology opening up a new era of personal genome sequencing, huge amounts of rare variant data have suddenly become available to researchers seeking genetic variants related to human complex disorders. There is an urgent need for the development of novel statistical methods to analyze rare variants in a statistically powerful manner. While a number of statistical...
متن کامل