4.5 Article

DiMSum: an error model and pipeline for analyzing deep mutational scanning data and diagnosing common experimental pathologies

期刊

GENOME BIOLOGY
卷 21, 期 1, 页码 -

出版社

BMC
DOI: 10.1186/s13059-020-02091-3

关键词

Deep mutational scanning; Bioinformatic pipeline; Statistical model; Variant effect prediction; R package; Bioconda

资金

  1. European Research Council (ERC) [616434]
  2. Spanish Ministry of Economy and Competitiveness [BFU2017-89488-P, SEV-2012-0208]
  3. Bettencourt Schueller Foundation
  4. Agencia de Gestio d'Ajuts Universitaris i de Recerca (AGAUR) [2017 SGR 1322]
  5. CERCA Program/Generalitat de Catalunya
  6. Spanish Ministry of Economy, Industry and Competitiveness (MEIC)
  7. European Union [752809]
  8. Marie Curie Actions (MSCA) [752809] Funding Source: Marie Curie Actions (MSCA)

向作者/读者索取更多资源

Deep mutational scanning (DMS) enables multiplexed measurement of the effects of thousands of variants of proteins, RNAs, and regulatory elements. Here, we present a customizable pipeline, DiMSum, that represents an end-to-end solution for obtaining variant fitness and error estimates from raw sequencing data. A key innovation of DiMSum is the use of an interpretable error model that captures the main sources of variability arising in DMS workflows, outperforming previous methods. DiMSum is available as an R/Bioconda package and provides summary reports to help researchers diagnose common DMS pathologies and take remedial steps in their analyses.

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