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

Tommaso AlfonsiAnna BernasconiArif CanakogluMarco Masseroli
Published in: BMC bioinformatics (2022)
The proposed data integration pipeline and data set extraction and summarization API pave the way for solid computational infrastructures that quickly process cumbersome variation data, and allow biologists and bioinformaticians to easily perform scalable analysis on user-defined partitions of large cohorts from increasingly available genetic variation studies. With the current tendency to large (cross)nation-wide sequencing and variation initiatives, we expect an ever growing need for the kind of computational support hereby proposed.
Keyphrases
  • electronic health record
  • big data
  • data analysis
  • gene expression
  • copy number