The ProDuSe Pipeline

The ProDuSe pipeline consists of multiple stages, each of which is described breifly here.

Trim

Trims the barcode sequence off each read, and stores it in a FASTQ comment. Any reads where the barcode deviates significantly from the expected degenerate range are discarded

  • Input: Paired fastq files
  • Output: Trimmed paired fastq files

Note

Trim can be used to demultiplex samples, assuming the barcodes used in each sample are sufficiently distinct

See also

Trim

Mapping

Maps provided reads to a reference genome using the Burrows-Wheeler Aligner (mem algorithm). The resulting SAM file is converted into a BAM file and sorted, with the FASTQ comment stored as a read tag.

  • Command: bwa mem <reference> <trimmed_fastq.R1.fastq> <trimmed_fastq.R2.fastq> | samtools view -b | samtools sort > out.trim.bam

Collapse

Collapses duplicate reads into a consensus sequence. In addition, reads which are in “duplex” (i.e. originate from the same parental molecule) are flagged here

  • Input: Trimmed BAM file
  • Output: Collapsed BAM File

See also

Collapse

ClipOverlap

Idenfies bases that overlap between each read pair, and generates a consensus from the overlap. This consensus is then assigned to only one read in the read pair, thus removing overlapping bases.

  • Input: Collapsed BAM file
  • Output: Clipped BAM file

See also

ClipOverlap

Call

Identifies all possible variants in the specified file, then filters those variants based upon capture-space and locus-specific characteristics.

  • Input: Clipped BAM file
  • Output: Two VCF files, listing raw (all) and filtered variants

See also

Call