Tutorial on 8 Genotype Files Conversion

Muhammad Muneeb, Samuel Feng, Andreas Henschel

Research output: Chapter in Book/Report/Conference proceedingConference contributionpeer-review

1 Scopus citations

Abstract

This article documents the files format conversion procedures for eight different genotype file formats using existing tools like Plink, Samtools, Gtools, and custom code script where necessary. It provides documentation and the corresponding code segment for each conversion to serve conversion procedures in a plate to beginners and researchers to build on top of the existing code to develop enhanced and fast conversion procedures. The code is written in Python and GNU commands, enabling deployment from general-purpose computers to high-performance computing setups. In addition, the documentation is written in the form of the tutorial, highlighting the reason for using a particular step in the conversion procedure and its effect on intermediate genotype data, ultimately enhancing the comprehension abilities of people struggling with file conversion when developing their pipelines for the analysis. In the first version of the documentation, we considered eight file formats: VCF, BED-BIM-FAM, PED-MAP, GEN-SAMPLE, RAW, HAPS-LEGEND-SAMPLE, 23andme, and AncestryDNA.

Original languageBritish English
Title of host publication2022 10th International Conference on Bioinformatics and Computational Biology, ICBCB 2022
PublisherInstitute of Electrical and Electronics Engineers Inc.
Pages13-17
Number of pages5
ISBN (Electronic)9781665401081
DOIs
StatePublished - 2022
Event10th International Conference on Bioinformatics and Computational Biology, ICBCB 2022 - Virtual, Hangzhou, China
Duration: 13 May 202215 May 2022

Publication series

Name2022 10th International Conference on Bioinformatics and Computational Biology, ICBCB 2022

Conference

Conference10th International Conference on Bioinformatics and Computational Biology, ICBCB 2022
Country/TerritoryChina
CityVirtual, Hangzhou
Period13/05/2215/05/22

Keywords

  • bioinformatics
  • computational biology
  • genetic file conversion
  • genetic tools
  • genetics

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