Ontology highlight
ABSTRACT:
SUBMITTER: Yang Y
PROVIDER: S-EPMC8898002 | biostudies-literature | 2022 Jan
REPOSITORIES: biostudies-literature
Yang Yingxi Y Sun Quan Q Huang Le L Broome Jai G JG Correa Adolfo A Reiner Alexander A Raffield Laura M LM Yang Yuchen Y Li Yun Y
Briefings in bioinformatics 20220101 1
Multiple statistical methods for aggregate association testing have been developed for whole-genome sequencing (WGS) data. Many aggregate variants in a given genomic window and ignore existing knowledge to define test regions, resulting in many identified regions not clearly linked to genes, and thus, limiting biological understanding. Functional information from new technologies (such as Hi-C and its derivatives), which can help link enhancers to their effector genes, can be leveraged to predef ...[more]