######### Changelog ######### .. Newest changes should be on top. .. This document is user facing. Please word the changes in such a way .. that users understand how the changes affect the new version. ********** v2.2.1 ********** Breaking changes ================ * The `bed_variant_call_regions` option has been removed, variants are now called for all genes present in the `gtf` file. * Add graphviz/`dot` as a dependency (developer only). * Please create a new HAMLET configuration file with `create-config.py` script. * To use the latest hotspot regions and artifact blacklist, please recreate the HAMLET reference data. Novel module ============ * Add novel module, **expression**, which analyzes gene expression. * Add optional input `strandedness` to the sample configuration. * Add json output file for the expression module. Bugfixes ======== * Fix a rare bug where different modules use the same MultiQC file list. * Fix a bug with filtering VEP records that contain multiple population. frequency records for a single variant. Updates ======= * Add ability to generate configurations for each module using the `utilities/create-config.py` script. * Update the hotspot regions reference file. * Update the blacklist of known artifacts. * Remove various superfluous plots from the MultiQC report. ********** v2.1.3 ********** * Add `pysam` to the conda environment (developer only) * Add exon number to variant table * Add chromosomes to fusion table ********** v2.1.2 ********** * Set the maximum population frequency to 1%. This was accidentally set to 5% in v2.1.1 ********** v2.1.1 ********** Bugfixes ======== * Fix a bug where VEP removed rare variants ********** v2.1.0 ********** Breaking changes ================ * Remove the JSON output for the qc-seq module (this has been replaced by a MultiQC report) * Add sample name to STAR counts table Changes ======= * Automatically remove _STAR temporary folders * Modified PDF formatting * Change cover image * Add bookmarks under chapter variant * Sort the genes of interest alphabetically * Lock snakefmt version * Remove the "Sequencing Results" section from the report (this has been replaced by a MultiQC report) * Replace FastQC with Sequali Bugfixes ======== * Fix a bug where the trimmed FastQ files are not removed when no longer needed Updates ======= * Update Cutadapt to 4.6 * Update MultiQC to 1.22 * Update snakefmt to 0.10.0 (developer only) * Update black to 24.3.0 (developer only) ********** v2.0.5 ********** * Increase space for the HGVS description in "Results Overview" table ********** v2.0.4 ********** * Automatically check the release tag is set correctly ********** v2.0.3 ********** Bugfixes ======== * Fix a bug where long HGVS descriptions make the "Results Overview" table overflow the page ********** v2.0.2 ********** * Include the sample name in the final BAM file ********** v2.0.1 ********** Bugfixes ======== * Update version number in HAMLET report ********** v2.0.0 ********** Bugfixes ======== * Fix a bug with inconsistent config setting 'blacklist' in snv*indels * Fix a bug where unmapped reads are not included in STAR output file Tool changes ============ * Replace StarFusion and FusionCatcher with Arriba * Replace VarScan variant caller with VarDict * Replace GSNAP aligner with STAR Tool updates ============ * Update VEP to 108.2 * Update Picard to 2.27.4 * Update FastQC to 0.11.9 * Update Cutadapt to 4.1 Speed improvements ================== * Use multiple threads for Cutadapt, and reduce the compression of output files Changes ======= * Remove run name from the report * Deprecate option `fusion*partners`, in favour of `report_genes`, which points to a list of fusion genes to report * Show allele frequency as a percentage in the pfd report * Add additional genes of interest - SRSF2 - SF3B1 - U2AF1 - BCOR - STAG2 - ZRSR2 - EZH2 * Filter fusion results based on fusion partners * Add fusion plots from Arriba * Add default blacklist with common false*positive variants * Add support for variant blacklist in VEP hgvsc format * Add script to generate a configuration file * Add pipeline to generate reference files * Add per*module configuration options * Add support for PEP sample configuration * Add support for Snakemake 7.8.5 * Remove variants plots * Use MANE select transcript for all genes