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A simple pipeline to find uniparental-disomy based on GVCF data using UPDio

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Uniparental disomy

A pipeline around UPDio. UPDio has some requirements for inputs. This pipeline makes it simpler by requiring:

  • A GVCF file for each trio sample.
  • A BED file containing common SNPs.

The pipeline will convert these into formats that UPDio can handle.

Documentation

You can find the documentation here.

About

This pipeline is part of Biowdl, developed by the SASC team at Leiden University Medical Center.

Contact

For any question related to this pipeline, please use the github issue tracker or contact the SASC team directly at: [email protected].

About

A simple pipeline to find uniparental-disomy based on GVCF data using UPDio

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