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File bcftools.changes of Package bcftools
------------------------------------------------------------------- Fri May 14 10:42:08 UTC 2021 - Ferdinand Thiessen <rpm@fthiessen.de> - Update to version 1.12 * The output file type is determined from the output file name suffix, where available, so the -O/--output-type option is often no longer necessary. * Make F_MISSING in filtering expressions work for sites with multiple ALT alleles * Fix N_PASS and F_PASS to behave according to expectation when reverse logic is used (#1397). This fix has the side effect of query (or programs like +trio-stats) behaving differently with these expressions, operating now in site-oriented rather than sample-oriented mode. * bcftools annotate: * New --rename-annots option to help fix broken VCFs * New -C option allows to read a long list of options from a file to prevent very long command lines. * New append-missing logic allows annotations to be added for each ALT allele in the same order as they appear in the VCF. * bcftools concat: * Do not phase genotypes by mistake if they are not already phased with -l * bcftools consensus: * New --mask-with, --mark-del, --mark-ins, --mark-snv options * Symbolic <DEL> should have only one REF base. If there are multiple, take POS+1 as the first deleted base. * Make consensus work when the first base of the reference genome is deleted. * bcftools +contrast: * The NOVELGT annotation was previously not added when requested. * bcftools convert: * Make the --hapsample and --hapsample2vcf options consistent with each other and with the documentation. * bcftools call: * Revamp of call -G, previously sample grouping by population was not truly independent and could still be influenced by the presence of other sample groups. * Optional addition of INFO/PV4 annotation with call -a INFO/PV4 * Remove generation of useless HOB and ICB annotation; use +fill-tags -- -t HWE,ExcHet instead * The call -f option was renamed to -a to (1) make it consistent with mpileup and (2) to indicate that it includes both INFO and FORMAT annotations * bcftools csq: * Fix a bug wich caused incorrect FORMAT/BCSQ formatting at sites with too many per-sample consequences * Fix a bug which incorrectly handled the --ncsq parameter and could clash with reserved BCF values, consequently producing truncated or even incorrect output of the %TBCSQ formatting expression in bcftools query. * bcftools +fill-tags: * MAF definition revised for multiallelic sites, the second most common allele is considered to be the minor allele * New FORMAT/VAF, VAF1 annotations to set the fraction of alternate reads provided FORMAT/AD is present * bcftools gtcheck: * support matching of a single sample against all other samples in the file with -s qry:sample -s gt:-. * bcftools merge: * Make merge -R behavior consistent with other commands and pull in overlapping records with POS outside of the regions * Bug fix * bcftools mpileup: * Add new optional tag mpileup -a FORMAT/QS * bcftools norm: * New -a, --atomize functionality to decompose complex variants, for example MNVs into consecutive SNVs * New option --old-rec-tag to indicate the original variant * bcftools query: * Incorrect fields were printed in the per-sample output when subset of samples was requested via -s/-S and the order of samples in the header was different from the requested -s/-S order * bcftools +prune: * New options --random-seed and --nsites-per-win-mode * bcftools +split-vep: * Transcript selection now works also on the raw CSQ/BCSQ annotation. * Bug fix, samples were dropped on VCF input and VCF/BCF output * bcftools stats: * Changes to QUAL and ts/tv plotting stats: avoid capping QUAL to predefined bins, use an open-range logarithmic binning instead * plot dual ts/tv stats: per quality bin and cumulative as if threshold applied on the whole dataset * bcftools +trio-dnm2: * Major revamp of +trio-dnm plugin, which is now deprecated and replaced by +trio-dnm2. * The original trio-dnm calling model used genotype likelihoods (PLs) as the input for calling. * This new version also implements the DeNovoGear model. * For more details see http://samtools.github.io/bcftools/trio-dnm.pdf - Update use_python3.patch ------------------------------------------------------------------- Thu May 13 00:53:30 UTC 2021 - Ferdinand Thiessen <rpm@fthiessen.de> - Update to version 1.11 * Breaking change in -i/-e expressions on the FILTER column. The new behaviour is: Expression Result FILTER="A" Exact match, for example "A;B" does not pass FILTER!="A" Exact match, for example "A;B" does pass FILTER~"A" Both "A" and "A;B" pass FILTER!~"A" Neither "A" nor "A;B" pass * Fix in commutative comparison operators, in some cases reversing sides would produce incorrect results * Better support for filtering on sample subsests * bcftools annotate: * Previously it was not possible to use --columns =TAG with INFO tags and the --merge-logic feature was restricted to tab files with BEG,END columns, now extended to work also with REF,ALT. * Make annotate -TAG/+TAG work also with FORMAT fields. * ID and FILTER can be transferred to INFO and ID can be populated from INFO. * bcftools consensus: * Fix in handling symbolic deletions and overlapping variants. * Fix --iupac-codes crash on REF-only positions with ALT=".". * Fix --chain crash * Preserve the case of the genome reference. * Add new -a, --absent option which allows to set positions with no supporting evidence to "N" (or any other character). * bcftools convert: * The option --vcf-ids now works also with -haplegendsample2vcf. * New option --keep-duplicates * bcftools csq: * Add misc/gff2gff.py script for conversion between various flavors of GFF files. The initial commit supports only one type * Add missing consequence types. * Allow overlapping CDS to support ribosomal slippage. * bcftools +fill-tags: * Added new annotations: INFO/END, TYPE, F_MISSING. * bcftools filter: * Make --SnpGap optionally filter also SNPs close to other variant types. * bcftools gtcheck: * Complete revamp of the command. The new version is faster and allows N:M sample comparisons, not just 1:N or NxN comparisons. Some functionality was lost (plotting and clustering) but may be added back on popular demand. * bcftools +mendelian: * Revamp of user options, output VCFs with mendelian errors annotation, read PED files * bcftools merge: * Update headers when appropriate with the '--info-rules *:join' INFO rule. * Local alleles merging that produce LAA and LPL when requested, a draft implementation of samtools/hts-specs#434 * New --no-index which allows to merge unindexed files. * Fixes in gVCF merging. * bcftools norm: * Fixes in --check-ref s reference setting features with non-ACGT bases. * New --keep-sum switch to keep vector sum constant when splitting multiallelics. * bcftools +prune: * Extend to allow annotating with various LD metrics: r^2, Lewontin's D' * bcftools query: * New %N_PASS() formatting expression to output the number of samples that pass the filtering expression. * bcftools reheader: * Improved error reporting to prevent user mistakes. * bcftools roh: * The --AF-file description incorrectly suggested "REF\tALT" instead of the correct "REF,ALT". * RG lines could have negative length. * new --include-noalt option to allow also ALT=. records. * bcftools scatter: * New plugin intended as a convenient inverse to concat * bcftools +split: * New --groups-file option for more flexibility of defining desired output * New --hts-opts option to reduce required memory by reusing one output header and allow overriding the default hFile's block size * Add support for multisample output and sample renaming * bcftools +split-vep: * Add default types (Integer, Float, String) for VEP subfields and make --columns - extract all subfields into INFO tags in one go. ------------------------------------------------------------------- Tue Feb 25 11:46:58 UTC 2020 - Pierre Bonamy <flyos@mailoo.org> - Changed python dependencies from python3 to python3-base and python3-matplotlib ------------------------------------------------------------------- Wed Feb 12 15:10:09 UTC 2020 - Todd R <toddrme2178@gmail.com> - Add use_python3.patch to switch from python2 to python3 ------------------------------------------------------------------- Wed Feb 5 19:01:01 UTC 2020 - Todd R <toddrme2178@gmail.com> - Update to 1.10.2 * This release fixes crashes reported on files including integer INFO tags with values outside the range officially supported by VCF. It also fixes a bug where invalid BCF files would be created if such values were present. - Update to 1.10.0 + Numerous bug fixes, usability improvements and sanity checks were added to prevent common user errors. + The -r, --regions (and -R, --regions-file) option should never create unsorted VCFs or duplicates records again. This also fixes rare cases where a spanning deletion makes a subsequent record invisible to bcftools isec and other commands. + Additions to filtering and formatting expressions * support for the spanning deletion alternate allele (ALT=*) * new ILEN filtering expression to be able to filter by indel length * new MEAN, MEDIAN, MODE, STDEV, phred filtering functions * new formatting expression %PBINOM (phred-scaled binomial probability), %INFO (the whole INFO column), %FORMAT (the whole FORMAT column), %END (end position of the REF allele), %END0 (0-based end position of the REF allele), %MASK (with multiple files indicates the presence of the site in other files) + New plugins * +gvcfz: compress gVCF file by resizing gVCF blocks according to specified criteria * +indel-stats: collect various indel-specific statistics * +parental-origin: determine parental origin of a CNV region * +remove-overlaps: remove overlapping variants. * +split-vep: query structured annotations such INFO/CSQ created by bcftools/csq or VEP * +trio-dnm: screen variants for possible de-novo mutations in trios + annotate * new -l, --merge-logic option for combining multiple overlapping regions + call * new bcftools call -G, --group-samples option which allows grouping samples into populations and applying the HWE assumption within but not across the groups. + csq * significant reduction of memory usage in the local -l mode for VCFs with thousands of samples and 20% reduction in the non-local haplotype-aware mode. * fixes a small memory leak and formatting issue in FORMAT/BCSQ at sites with many consequences * do not print protein sequence of start_lost events * support for "start_retained" consequence * support for symbolic insertions (ALT="<INS...>"), "feature_elongation" consequence * new -b, --brief-predictions option to output abbreviated protein predictions. + concat * the --naive command now checks header compatibility when concatenating multiple files. + consensus * add a new -H, --haplotype 1pIu/2pIu feature to output first/second allele for phased genotypes and the IUPAC code for unphased genotypes * new -p, --prefix option to add a prefix to sequence names on output + +contrast * added support for Fisher's test probability and other annotations + +fill-from-fasta * new -N, --replace-non-ACGTN option + +dosage * fix some serious bugs in dosage calculation + +fill-tags * extended to perform simple on-the-fly calculations such as calculating INFO/DP from FORMAT/DP. + merge * add support for merging FORMAT strings * bug fixed in gVCF merging + mpileup * a new optional SCR annotation for the number of soft-clipped reads + reheader * new -f, --fai option for updating contig lines in the VCF header + +trio-stats * extend output to include DNM homs and recurrent DNMs + VariantKey support ------------------------------------------------------------------- Thu Sep 6 08:43:05 UTC 2018 - flyos@mailoo.org - Update to 1.9 * `annotate` - REF and ALT columns can be now transferred from the annotation file. - fixed bug when setting vector_end values. * `consensus` - new -M option to control output at missing genotypes - variants immediately following insersions should not be skipped. Note however, that the current fix requires normalized VCF and may still falsely skip variants adjacent to multiallelic indels. - bug fixed in -H selection handling * `convert` - the --tsv2vcf option now makes the missing genotypes diploid, "./." instead of "." - the behavior of -i/-e with --gvcf2vcf changed. Previously only sites with FILTER set to "PASS" or "." were expanded and the -i/-e options dropped sites completely. The new behavior is to let the -i/-e options control which records will be expanded. In order to drop records completely, one can stream through "bcftools view" first. * `csq` - since the real consequence of start/splice events are not known, the aminoacid positions at subsequent variants should stay unchanged - add `--force` option to skip malformatted transcripts in GFFs with out-of-phase CDS exons. * `+dosage`: output all alleles and all their dosages at multiallelic sites * `+fixref`: fix serious bug in -m top conversion * `-i/-e` filtering expressions: - add two-tailed binomial test - add functions N_PASS() and F_PASS() - add support for lists of samples in filtering expressions, with many samples it was impractical to list them all on the command line. Samples can be now in a file as, e.g., GT[@samples.txt]="het" - allow multiple perl functions in the expressions and some bug fixes - fix a parsing problem, '@' was not removed from '@filename' expressions * `mpileup`: fixed bug where, if samples were renamed using the `-G` (`--read-groups`) option, some samples could be omitted from the output file. * `norm`: update INFO/END when normalizing indels * `+split`: new -S option to subset samples and to use custom file names instead of the defaults * `+smpl-stats`: new plugin * `+trio-stats`: new plugin * Fixed build problems with non-functional configure script produced on some platforms ------------------------------------------------------------------- Thu Jul 12 08:58:12 UTC 2018 - flyos@mailoo.org - Cleaned spec file using spec-cleaner - Update to 1.8 * `-i, -e` filtering: Support for custom perl scripts * `+contrast`: New plugin to annotate genotype differences between groups of samples * `+fixploidy`: New options for simpler ploidy usage * `+setGT`: Target genotypes can be set to phased by giving `--new-gt p` * `run-roh.pl`: Allow to pass options directly to `bcftools roh` * Number of bug fixes * `-i, -e` filtering: Major revamp, improved filtering by FORMAT fields and missing values. New GT=ref,alt,mis etc keywords, check the documenation for details. * `query`: Only matching expression are printed when both the -f and -i/-e expressions contain genotype fields. Note that this changes the original behavior. Previously all samples were output when one matching sample was found. This functionality can be achieved by pre-filtering with view and then streaming to query. Compare bcftools query -f'[%CHROM:%POS %SAMPLE %GT\n]' -i'GT="alt"' file.bcf and bcftools view -i'GT="alt"' file.bcf -Ou | bcftools query -f'[%CHROM:%POS %SAMPLE %GT\n]' * `annotate`: New -k, --keep-sites option * `consensus`: Fix --iupac-codes output * `csq`: Homs always considered phased and other fixes * `norm`: Make `-c none` work and remove `query -c` * `roh`: Fix errors in the RG output * `stats`: Allow IUPAC ambiguity codes in the reference file; report the number of missing genotypes * `+fill-tags`: Add ExcHet annotation * `+setGt`: Fix bug in binom.test calculation, previously it worked only for nAlt<nRef! * `+split`: New plugin to split a multi-sample file into single-sample files in one go * Improve python3 compatibility in plotting scripts * New `sort` command. * New options added to the `consensus` command. Note that the `-i, --iupac` option has been renamed to `-I, --iupac`, in favor of the standard `-i, --include`. * Filtering expressions (`-i/-e`): support for `GT=<type>` expressions and for lists and ranges (#639) - see the man page for details. * `csq`: relax some GFF3 parsing restrictions to enable using Ensembl GFF3 files for plants (#667) * `stats`: add further documentation to output stats files (#316) and include haploid counts in per-sample output (#671). * `plot-vcfstats`: further fixes for Python3 (@nsoranzo, #645, #666). * `query` bugfix (#632) * `+setGT` plugin: new option to set genotypes based on a two-tailed binomial distribution test. Also, allow combining `-i/-e` with `-t q`. * `mpileup`: fix typo (#636) * `convert --gvcf2vcf` bugfix (#641) * `+mendelian`: recognize some mendelian inconsistencies that were being missed (@oronnavon, #660), also add support for multiallelic sites and sex chromosomes. ------------------------------------------------------------------- Mon Jul 10 21:28:20 UTC 2017 - flyos@mailoo.org - Update to 1.5 - Fixed some runtime dependencies (perl and python-matplotlib) ------------------------------------------------------------------- Sun May 22 09:16:49 UTC 2016 - flyos@mailoo.org - Initial release
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