Skip to content

Laboratory-for-Genotyping-Development/TargetSequence

Folders and files

NameName
Last commit message
Last commit date

Latest commit

 

History

8 Commits
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 

Repository files navigation

Target Sequence

Pipeline script collection for NGS Target Sequence.

Brief workflow

fastq -> SampleBamCall -> IndividualBamCall -> ListupVariants -> GroupGenotyping -> DrawVAFPlot -> ReviseGenotyping -> vcf

System requirements

  • OS: Linux (We usually use CentOS. Ubuntu also works probably.)
  • This pipeline works on Grid Engine environment.
    • Like Sun Grid Engine (Univa Grid Engine, Open Grid Scheduler, etc...)

Software requirements

  • GATK3 (GATK4 does not work because UnifiedGenotyper abolished.)
  • bwa
  • samtools
  • picard-tools
  • vcftools
  • cutadapt or fastx_toolkit
  • R (with 'stringr' package)

Description of SampleTable

  • Name: Fastq file name
  • Plate_WellNo: Plate well position number (e.g. Plate01_001)
  • Plate_Set: Plate name - primer pool name (e.g. Plate01_set1A)
  • Class: Case/Control/NTC/NA
  • Bed: Path to BED file
  • FCno: Path to fastq dir
  • Naming: Illumina NGS machine name (e.g. HiSeq, MiSeq, etc...)
  • Fasta: Path to primer fasta file

Description of IndividualTable

  • IDY: Individual ID
  • Plate_WellNo: Plate well position number (e.g. Plate01_001)
  • Plate: Plate name
  • Class: Case/Control/NTC/NA
  • Bed: Path to BED file

Requests

When using these scripts, please include the following paper as citations.

  • Hum Mol Genet. 2016 Nov 15;25(22):5027-5034

About

No description, website, or topics provided.

Resources

License

Stars

Watchers

Forks

Packages

 
 
 

Contributors