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sage v3.1

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@charlesshale charlesshale released this 14 Jul 07:15
· 6240 commits to master since this release

Functional:

  • lowered event penalty from 8 to 7
  • count realigned reads towards tumor qual
  • test realignment at left and right core only
  • only realign INDELs >= 3 bases or with an INDEL in read overlapping the variant core
  • add 1 to realign max distance
  • find inserts in soft-clipped bases, minimum length of 12 and at least 5 bases from start of soft-clip, use supplementary reads
  • add separate soft-filters for minGermlineCoverage (9 and 15, vs existing 6 and 10) for inserts of at least 10 bases
  • added evidence core search to see if straddles the soft-clip and matched region
  • use avg base-qual for raw alt quality for indels
  • allow core low base-qual matching for inserts at a rate of 1 per 20 inserted bases
  • added hotspot min raw alt base quality threshold of 150
  • max alt support now also applied to inserts >= 10 bases and as a percent vs 1%

Bugs:

  • fixed indel dedup where multiple overlap

Technical:

  • write multiple local phase sets to VCF
  • handle x.y.z type versions when checked in append mode