Changes in version 1.6.3 ------------------------ - Fixed example broken in 1.6.2 Changes in version 1.6.2 ------------------------ - Fixed logging issues in PureCN.R and NormalDB.R - Bugfix in findBestNormal with pool and num.normals > 1 (voom was target length normalized read counts provided, not raw counts) Changes in version 1.6.1 ------------------------ - Fixed crash when VCF contained variants with 0 coverage - Fixed crash in calculatePowerDetectSomatic when fdr was 0 - Minor edits to "Quick Start" vignette Changes in version 1.6.0 ------------------------ - Lots of improvements to command line scripts - Improved somatic vs. germline status calling - Better mapping bias estimation and correction - Better integration into existing copy number pipelines - Support for cell lines - New GC-normalization for smaller gene panels - Added sub-clonal SNV state (SOMATIC.M0) - Added beta-binomial model for noisy allelic fractions - Polished plots, added new GC-normalization and volcano plots - Better copy number normalization using multiple best normals - Removed automatic curation, since the tuned likelihood model of runAbsoluteCN was hard to beat - More control over homozygous deletions (significant portion of wrong maximum likelihood solutions had many homozygous deletions) - Faster post.optimize=TRUE by not optimizing poor fits or unlikely solutions - Automatic 50bp interval padding - Tweaks to segmentationPSCBS - seg.file can contain multiple samples - Contamination rate estimation (experimental) - Code cleanups (switch from inlinedocs to roxygen, from message/warn to futile.logger) API CHANGES - runAbsoluteCN output from PureCN 1.2 cannot be analyzed with PureCN 1.6 and needs to be re-run. We hope to avoid this in the future. - Renamed functions: readCoverageGatk to readCoverageFile since future versions will likely support additional third-party tools. - Deprecated functions: createSNPBlacklist, getDiploid, autoCurateResults - Defunct functions: createExonWeightFile - Changed defaults: - min.normals 4 (from 10) in setMappingBiasVcf - max.segments 300 (from 200) in runAbsoluteCN - min.targeted.base 5 (from 4) in filterTargets - max.homozygous.loss now a double(2) vector, with first element specifying the maximum fraction of genome deleted (default 5%) and the second value the maximum size of a homozygous loss (default 10mb). - prior somatic for variants in both dbSNP and COSMIC changed from 0.01 and requiring 3 hits to 0.5 and requiring 4 hits. - Other minor changes: - Renamed some predictSomatic() output column names - Removed "beta.model" from "SNV.posterior" slot since model is now an option - Moved remove.off.target.snvs to filterVcfBasic - Moved normalDB from filterTargets to runAbsoluteCN, since it is now used for more than target filtering - Dropped BED file support in calculateGCContentByInterval Instead provide support for GRanges - poolCoverage: w argument now used as provided, not normalized so that w[1] is 1 - Removed ... from runAbsoluteCN - min.coverage removed from segmentation function, since this is now done by filterTargets - Added centromeres to segmentation function - Replaced contamination.cutoff with contamination.range in filterVcfBasic - Removed verbose from most functions, since messages are now controlled with futile.logger - Smoothing of log-ratios before segmentation now optionally done by runAbsoluteCN, not segmentation function - setMappingBiasVcf now returns a list with elements bias (the old return value) and pon.count, the number of hits in the PON PLANNED FEATURES FOR 1.8 - Better sample summary statistics, like mutation burden, chromosomal instability - Better performance in low purity samples - Better performance in high purity samples with significant heterogeneity - LOH database - Switch to S4 data structures (maybe) - Whole dataset visualizations (maybe) - Better support for known, small deletions and amplifications (e.g. EGFRvIII, MYC) - Support for GATK4 - Better runtime performance by ignoring unlikely solutions early