@@ -5,6 +5,117 @@ RTG.VERSION is based. Not all features described below may be included
55in this product.
66
77
8+ RTG Core 3.12 (2021-01-27)
9+ --------------------------
10+
11+ This release includes new features and commands, along with the
12+ usual assortment of minor features and bug fixes. Several of these
13+ result in command line arguments or changes to program outputs, so check
14+ existing scripts for compatibility before upgrading. Larger features of
15+ note:
16+
17+ * Several improvements to vcfeval, which now includes the ability to
18+ match variant calls of non-diploid genomes and to output additional ROC
19+ stratifications, including user-defined custom JavaScript
20+ stratifications.
21+
22+ * A new command vcf2rocplot for aggregating and regenerating ROC
23+ information from one or more vcfeval annotated evaluation outputs. This
24+ is particularly useful for aggregating results from multiple samples or
25+ re-evaluating with respect to different score criteria or
26+ stratifications.
27+
28+ There have been many other minor improvements and feature
29+ additions. Detailed changes are listed below by area. For more
30+ information on new features, see the RTG Operations Manual.
31+
32+ ### Variant Calling and Evaluation
33+
34+ * calling: Fixed a rare exception during variant calling arising from
35+ attempted output of an empty region when calling a single base region
36+ with --all mode.
37+
38+ * vcfeval: Support for the comparison of sample calls with ploidy greater
39+ than 2. This is enabled via the new flag --sample-ploidy N (the GT of
40+ any calls without the specified ploidy will be ignored). Note that as
41+ the ploidy increases the search space of possible phasings can expand
42+ significantly, which may cause long run times and/or regions where
43+ vcfeval cannot fully evaluate the alternatives.
44+
45+ * vcfeval: New flag --roc-subset to allow stratifications by common
46+ variant types. While the default is to produce SNP and non-SNP
47+ breakdowns, this flag allows a couple more presets.
48+
49+ * vcfeval: New flag --roc-regions to allow stratification by overlap with
50+ regions loaded from BED file, for example the stratification regions
51+ provided by the Genome in a Bottle project.
52+
53+ * vcfeval: New flag --roc-expr to allow custom stratifications defined by
54+ a user-supplied JavaScript expression, for example to stratify by depth
55+ of coverage during calling, variant allelic fraction or other
56+ annotations present in the input VCFs. For more information see the
57+ user manual.
58+
59+ * vcf2rocplot: New beta command to produce a rocplot-compatible data file
60+ from one or more vcfeval output directories. See the user manual
61+ for more information on usage.
62+
63+ * rocplot: User-selectable preset palettes are available via
64+ --palette. In particular, several of the palettes are more color-blind
65+ friendly than the default palette.
66+
67+ * rocplot: Fix graph bounds maintenance when switching between ROC/PR.
68+
69+ * rocplot: Unified the GUI vs non-GUI plot styles. Both default to the
70+ "pretty" version with background gradient etc (previously the GUI
71+ default), and a new flag --plain switches to the plain style (which was
72+ previously the non-GUI default).
73+
74+ * rocplot: (GUI) Supports loading ROC data files by drag and drop into
75+ the graph or curve configuration widget areas.
76+
77+ * rocplot: PNG images now include rocplot command line as image metadata
78+ for future reference. A new flag --cmd when run on a previously saved
79+ rocplot PNG image containing this metadata will display the rocplot
80+ command line.
81+
82+ ### Variant Processing and Analysis
83+
84+ * vcffilter: Javascript filters can now easily test for genomic range
85+ overlaps with ranges loaded from BED or VCF. See the user manual for
86+ more information.
87+
88+ * vcfdecompose: Graceful error handling of the case where the supplied
89+ SDF does not contain a reference sequence named in the VCF.
90+
91+ * vcfmerge: Ensure that when merging files with and without GT that the
92+ GT is maintained as the first FORMAT field, as per VCF specification.
93+
94+ ### Other
95+
96+ * docker: Include fontconfig in docker images so that image writing
97+ during rocplot and other command reports doesn't crash.
98+
99+ * childsim: Better detection of inconsistent sex declarations in VCF
100+ header / pedigree.
101+
102+ * samplesim: With appropriate reference.txt configuration specifying
103+ expected ploidy, now allows the simulation of higher ploidies.
104+
105+ * many: Improved the handling of SAM records containing invalid CIGAR
106+ fields.
107+
108+ * misc: Updated htsjdk to 2.23.0.
109+
110+ * misc: Updated the JRE used in bundled builds to Zulu Community OpenJDK
111+ 8u282.
112+
113+ * misc: Compatibility testing with JDK 15. Note that JDK15 removes the
114+ nashorn JavaScript engine, which disables the JavaScript functionality
115+ of vcffilter, vcfeval, vcf2rocplot unless your JVM has been augmented
116+ with the GraalVM JavaScript engine.
117+
118+
8119RTG Core 3.11 (2020-02-25)
9120--------------------------
10121
@@ -172,7 +283,7 @@ This release primarily includes bugfixes and minor improvements:
172283* map: Fix an exception that could be triggered during report generation
173284 when using --all-hits.
174285
175- * rocplot: (gui ) Fix the status bar metrics not showing when the curve
286+ * rocplot: (GUI ) Fix the status bar metrics not showing when the curve
176287 hugs an axis.
177288
178289* rocplot: Fix a rare exception that would occur during
@@ -2686,7 +2797,7 @@ pipeline scripts may be required.
26862797 --max-insert-size renamed to --max-fragment-size
26872798 --min-insert-size renamed to --min-fragment-size
26882799 --max-alignment-score renamed to --max-mismatches
2689- --max-mated-score renamed to --max-mated-mismatches
2800+ --max-mated-score renamed to --max-mated-mismatches
26902801 --max-unmated-score renamed to --max-unmated-mismatches
26912802
26922803* map/mapf/cgmap: The various --max-*-mismatches flags have a slightly
@@ -2943,7 +3054,7 @@ so updates to your pipeline scripts may be required.
29433054 appropriate "click-to-open" behavior for viewing tabular results in
29443055 a spreadsheet application. Full listing below:
29453056
2946- mapx: Renamed primary output files (alignments.txt -> alignments.tsv
3057+ mapx: Renamed primary output files (alignments.txt -> alignments.tsv
29473058 and unmapped.txt -> unmapped.tsv)
29483059
29493060 map/cgmap: Read group statistics output file (rgstats.txt -> rgstats.tsv)
@@ -3481,7 +3592,7 @@ Changes by command:
34813592 accompanying calibration files, a merged calibration file will
34823593 automatically be created.
34833594
3484- * sammerge: Flag --exclude-duplicates was not working correctly. Fixed.
3595+ * sammerge: Flag --exclude-duplicates was not working correctly. Fixed.
34853596
34863597* sammerge: Added the flag --legacy-cigars to allow convert new-style
34873598 (X/=) CIGARS to legacy cigars in the output.
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