Article
Genomic data integration and user-defined sample-set extraction for population variant analysis.
BMC bioinformatics - 29 Sept 2022
Alfonsi Tommaso, Bernasconi Anna, Canakoglu Arif, Masseroli Marco
Abstract excerpt
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...
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