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.

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

Alfonsi, Tommaso;Bernasconi, Anna;Canakoglu, Arif;Masseroli, Marco
2022-01-01

Abstract

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.
2022
1000 Genomes
Data integration
Data warehousing
Data wrangling
Human genetic variation
Population variant analysis
Computational Biology
Genotype
Humans
Software
Genomics
Metadata
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11311/1221629
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