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SNP calling, annotation and gene/transcripts expression quantification
PPLine is a Python-based suite aimed to process raw RNA-seq or Exome-seq data.
PPLine provides:
- read mapping (STAR/Tophat2/bowtie/bowtie2), including novel splice junsctions discovery
- gene and transcript expression estimation (HTSeq-count/Cufflinks)
- SNP calling with BQSR and indel realignment (samtools/GATK)
- variant annotation (Annovar)
- novel transcripts discovery (Cufflinks)
- predicting proteotypic peptides and creating ref/alt proteins fasta-database
- integration of the results
Enhanced splice junction detection and estimation from RNA-Seq data
FineSplice is a Python wrapper to TopHat2 geared towards a reliable identification of expressed exon junctions from RNA-Seq data, at enhanced detection precision with small loss in sensitivity.
Following alignment with TopHat2 using known transcript annotations, FineSplice takes as input the resulting BAM file and outputs a confident set of expressed splice junctions with the corresponding read counts.