CHIP Variant Calling and Processing
  • Clonal Hematopoesis Varaint Calling and Process
  • Workflow Description
  • Requirements
  • Installation and Usage
  • Tools Description
  • Inputs Description
  • Output Description
  • Usage of individual commands
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Tools Description

Versions of tools in order of process

Tool

Version

1.8.2

0.1.5

1.15.1

1.6

5.0

1.6.21

3.2.2

0.2.3

0.2.3

0.2.3

0.2.3

Files and Resources used

There are multiple files from different resources used in this workflow.

Steps

Database,Version

File

SnpSIFT annotate

Cosmic V96

1. overall prevalence is obtained from CosmicCodingMuts.normal.vcf.gz (Note: normal denotes normalized ) 2. lineage prevalence was obtained by processing CosmicCodingMuts.vcf.gz

vcf2maf

dmp_ACCESS-panelA-v1-isoform-overrides

OncoKB annotate

VEP 105

API token File

MAF annotated By BED/TSV

Mappability BED File

Ensembl HG19

wgEncodeDacMapabilityConsensusExcludable.bed.gz

Complexity BED File

Ensembl HG19

rmsk.txt.gz

47k CHPD TSV File

47K CH Putative Drivers list

Hotspot TSV File

47K CH PD variants with a prevalence >=5

Panmyeloid TSV File

Panmyeloid variants from IMPACT Haeme dataset

PreviousInstallation and UsageNextInputs Description

Last updated 1 year ago

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VarDict
Post Processing Variant - Single Sample FIlter
BCFtools - sort, normalize, bgzip, tabix
BCFtools - concat
SnpSift - annotate
vcf2maf
OncoKB - annotator
Post Processing Variant - MAF annotated by BED
Post Processing Variant - MAF annotated by TSV
Post Processing Variant - MAF tag
Post Processing Variant - MAF filter