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W1966154928 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." @default.
W1966154928 created "2016-06-24" @default.
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W1966154928 date "2014-06-01" @default.
W1966154928 modified "2023-10-16" @default.
W1966154928 title "Testing optimally weighted combination of variants for hypertension" @default.
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W1966154928 doi "https://doi.org/10.1186/1753-6561-8-s1-s59" @default.
W1966154928 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4143713" @default.
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