Genomic data integration and user-defined sample-set extraction for population variant analysis.

ABSTRACT:

Background

Population variant analysis is of great importance for gathering insights into the links between human genotype and phenotype. The 1000 Genomes Project established a valuable reference for human genetic variation; however, the integrative use of the corresponding data with other datasets within existing repositories and pipelines is not fully supported. Particularly, there is a pressing need for flexible and fast selection of population partitions based on their variant and metadata-related characteristics.

Results

Here, we target general germline or somatic mutation data sources for their seamless inclusion within an interoperable-format repository, supporting integration among them and with other genomic data, as well as their integrated use within bioinformatic

SUBMITTER: Alfonsi T 

PROVIDER: S-EPMC9520931 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature