A genome-wide scan statistic framework for whole-genome sequence data analysis.
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ABSTRACT:
SUBMITTER: He Z
PROVIDER: S-EPMC6616627 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
Publications
A genome-wide scan statistic framework for whole-genome sequence data analysis.
He Zihuai Z Xu Bin B Buxbaum Joseph J Ionita-Laza Iuliana I
Nature communications 20190709 1
The analysis of whole-genome sequencing studies is challenging due to the large number of noncoding rare variants, our limited understanding of their functional effects, and the lack of natural units for testing. Here we propose a scan statistic framework, WGScan, to simultaneously detect the existence, and estimate the locations of association signals at genome-wide scale. WGScan can analytically estimate the significance threshold for a whole-genome scan; utilize summary statistics for a meta- ...[more]
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