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Pisces Release Notes (official builds)

gwennberry edited this page Dec 1, 2016 · 1 revision

v5.1.6

Updates and fixes in this release

Pisces

Somatic Calling

  • Improve somatic accuracy by improving Q scores accuracy

Germline Calling

  • Update for compatibility with diploid phasing
  • Clean up overlapping variants into two separate alleles, as MNVs
  • Accurate functional consequence through complex regions
  • Location merging for not-co-located 1/2 GT
  • Genotype reporting at loci inside deletions and MNVs reported at earlier loci

Filtering

  • Allow application of RMxN filter to depend on variant frequency

Usability and Performance

  • Remove depracated aliases for command line options and make input arguments case insensitive
  • Update default value for Collapse parameter to true
  • Remove GTModel parameter
  • If supplied output folder doesn't exist, be kind to the user and create it
  • Remove internal stitching in favor of separate read-stitching executable
  • Turn off interval jumping during BAM reading

Bug Fixes

  • Some references were getting a PASS when they failed Q-score but did not fail depth (rare case, when a deletion or MNV would eat up all the other coverage, so coverage was high, but ref support was low enough to flunk Q score)
  • Fix bug in rounding when calculating coverage/variant frequency over a spanning stitched variant
  • Fix germline location merging for indels

New software in this release

Stitcher

The Stitcher reconciles paired alignments in a supplied BAM file, outputting a "stitched" BAM where each valid overlapping pair is merged into a single read. This allows for more accurate, fragment-based representation of paired end data - both in terms of coverage and of base-calling/alignment confidence by addressing agreements and disagreements in overlapping regions of paired reads.

Details at: Stitcher-5.1.6-Design-Document

Scylla

Detects multiple nucleotide variants (MNVs) in a given sample and phases the variants in complex regions into sub populations. Allows phasing of variants across reads.

Details at: Scylla-5.1.6-Design-Document

VariantQualityRecalibration

Recalibrates the variant quality scores (Q scores) if the particular variants are over represented

Details at: VQR-5.1.6-Design-Document

General

5.2.10

5.2.9

5.2.7

5.2.5

5.2.0

5.1.6

5.1.3

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