Year: 2014
Type: article
Abstract: Testing rare variants directly is possible with next-generation sequencing technology. In this article, we propose a sliding-window-based optimal-weighted approach to test for the effects of both rare and common variants across the whole genome. We measured the genetic association between a disease and a combination of variants of a single-nucleotide polymorphism window using the newly developed tests TOW and VW-TOW and performed a sliding-window technique to detect disease-susceptible windows. By applying the new approach to unrelated individuals of Genetic Analysis Workshop 18 on replicate 1 chromosome 3, we detected 3 highly susceptible windows across chromosome 3 for diastolic blood pressure and identified 10 of 48,176 windows as the most promising for both diastolic and systolic blood pressure. Seven of 9 top variants influencing diastolic blood pressure and 8 of 9 top variants influencing systolic blood pressure were found in or close to our top 10 windows.
Source: BMC Proceedings
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,290
Awards: Multiethnic Study of Type 2 Diabetes Genes, Identifying T2D Variants by DNA Sequencing in Multiethnic Samples, G2053005029, Identification and Replication of Type 2 Diabetes Genes in Mexican Americans, Discovery of Functional Variants in Type 2 Diabetes Genes in Mexican Americans, Identifying variants causal for Type 2 Diabetes in Major human populations, NIDDM Susceptibility Genes in Mexican Americans, Genetics of Gallbladder Disease in Mexican Americans, G725404114, Genetic Analysis of Common Diseases: An Evaluation
OpenAlex ID: W1966154928