Exome Seq Training Pre-Mapped W Cached Ref
5.0

Workflow Type: Galaxy

Exome sequencing data analysis for diagnosing a genetic disease; short version starting from pre-mapped reads

Associated Tutorial

This workflows is part of the tutorial Exome Seq Training Pre-Mapped W Cached Ref, available in the GTN

Features

Thanks to...

Tutorial Author(s): Wolfgang Maier, Bérénice Batut, Torsten Houwaart, Anika Erxleben, Björn Grüning

Workflow Author(s): Wolfgang Maier

gtn star logo followed by the word workflows

Inputs

ID Name Description Type
Father data Father data Pre-mapped reads of the father sample
  • File
Mother data Mother data Pre-mapped reads of the mother sample
  • File
PEDigree data PEDigree data Family tree with sex and phenotype information in PED format
  • File
Proband data Proband data Pre-mapped reads of the child/proband sample
  • File

Steps

ID Name Description
4 Samtools view toolshed.g2.bx.psu.edu/repos/iuc/samtools_view/samtools_view/1.15.1+galaxy0
5 Samtools view toolshed.g2.bx.psu.edu/repos/iuc/samtools_view/samtools_view/1.15.1+galaxy0
6 Samtools view toolshed.g2.bx.psu.edu/repos/iuc/samtools_view/samtools_view/1.15.1+galaxy0
7 RmDup toolshed.g2.bx.psu.edu/repos/devteam/samtools_rmdup/samtools_rmdup/2.0.1
8 RmDup toolshed.g2.bx.psu.edu/repos/devteam/samtools_rmdup/samtools_rmdup/2.0.1
9 RmDup toolshed.g2.bx.psu.edu/repos/devteam/samtools_rmdup/samtools_rmdup/2.0.1
10 FreeBayes toolshed.g2.bx.psu.edu/repos/devteam/freebayes/freebayes/1.3.6+galaxy0
11 bcftools norm toolshed.g2.bx.psu.edu/repos/iuc/bcftools_norm/bcftools_norm/1.15.1+galaxy3
12 SnpEff eff: toolshed.g2.bx.psu.edu/repos/iuc/snpeff/snpEff/4.3+T.galaxy2
13 GEMINI load toolshed.g2.bx.psu.edu/repos/iuc/gemini_load/gemini_load/0.20.1+galaxy2
14 GEMINI inheritance pattern toolshed.g2.bx.psu.edu/repos/iuc/gemini_inheritance/gemini_inheritance/0.20.1

Outputs

ID Name Description Type
snpeff_variant_stats snpeff_variant_stats n/a
  • File
normalized_snpeff_annotated_variants normalized_snpeff_annotated_variants n/a
  • File
candidate_mutations candidate_mutations n/a
  • File

Version History

5.0 (earliest) Created 25th Jun 2024 at 10:58 by Helena Rasche

Added/updated 4 files


Open master 35c50ac
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Views: 406   Downloads: 103

Created: 25th Jun 2024 at 10:58

Last updated: 25th Jun 2024 at 10:58

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