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| 1 | +## Release 1.14 (22nd October 2021) |
| 2 | + |
| 3 | + |
| 4 | +Changes affecting the whole of bcftools, or multiple commands: |
| 5 | + |
| 6 | +* New `--regions-overlap` and `--targets-overlap` options which address |
| 7 | + a long-standing design problem with subsetting VCF files by region. |
| 8 | + BCFtools recognize two sets of options, one for streaming (`-t/-T`) and |
| 9 | + one for index-gumping (`-r/-R`). They behave differently, the first |
| 10 | + includes only records with POS coordinate within the regions, the other |
| 11 | + includes overlapping regions. The two new options allow to modify the |
| 12 | + default behavior, see the man page for more details. |
| 13 | + |
| 14 | +* The `--output-type` option can be used to override the default compression |
| 15 | + level |
| 16 | + |
| 17 | +Changes affecting specific commands: |
| 18 | + |
| 19 | +* bcftools annotate |
| 20 | + |
| 21 | + - when `--set-id` and `--remove` are combined, `--set-id` cannot use |
| 22 | + tags deleted by `--remove`. This is now detected and the program |
| 23 | + exists with an informative error message instead of segfaulting |
| 24 | + (#1540) |
| 25 | + |
| 26 | + - while non-symbolic variation are uniquely identified by POS,REF,ALT, |
| 27 | + symbolic alleles starting at the same position were undistinguishable. |
| 28 | + This prevented correct matching of records with the same positions and |
| 29 | + variant type but different length given by INFO/END (samtools/htslib@60977f2). |
| 30 | + When annotating froma VCF/BCF, the matching is done automatically. When |
| 31 | + annotating from a tab-delimited text file, this feature can be invoked |
| 32 | + by using `-c INFO/END`. |
| 33 | + |
| 34 | + - add a new '.' modifier to control wheter missing values should be carried |
| 35 | + over from a tab-delimited file or not. For example: |
| 36 | + |
| 37 | + -c TAG .. adds TAG if the source value is not missing. If TAG |
| 38 | + exists in the target file, it will be overwritten |
| 39 | + |
| 40 | + -c .TAG .. adds TAG even if the source value is missing. This |
| 41 | + can overwrite non-missing values with a missing value |
| 42 | + and can create empty VCF fields (`TAG=.`) |
| 43 | + |
| 44 | +* bcftools +check-ploidy |
| 45 | + |
| 46 | + - by default missing genotypes are not used when determining ploidy. |
| 47 | + With the new option `-m, --use-missing` it is possible to use the |
| 48 | + information carried in the missing and half-missing genotypes |
| 49 | + (e.g. ".", "./." or "./1") |
| 50 | + |
| 51 | +* bcftools concat: |
| 52 | + |
| 53 | + - new `--ligate-force` and `--ligate-warn` options for finer control |
| 54 | + of `-l, --ligate` behavior in imperfect overlaps. The new default is |
| 55 | + to throw an error when sites present in one chunk but absent in the |
| 56 | + other are encountered. To drop such sites and proceed, use the new |
| 57 | + `--ligate-warn` option (previously this was the default). To keep such |
| 58 | + sites, use the new `--ligate-force` option (#1567). |
| 59 | + |
| 60 | +* bcftools consensus: |
| 61 | + |
| 62 | + - Apply mask even when the VCF has no notion about the chromosome. It |
| 63 | + was possible to encounter this problem when `contig` lines were not |
| 64 | + present in the VCF header and no variants were called on that chromosome |
| 65 | + (#1592) |
| 66 | + |
| 67 | +* bcftools +contrast: |
| 68 | + |
| 69 | + - support for chunking within map/reduce framework allowing to collect |
| 70 | + NASSOC counts even for empty case/control sample sets (#1566) |
| 71 | + |
| 72 | +* bcftools csq: |
| 73 | + |
| 74 | + - bug fix, compound indels were not recognised in some cases (#1536) |
| 75 | + |
| 76 | + - compound variants were incorrectly marked as 'inframe' even when |
| 77 | + stop codon would occur before the frame was restored (#1551) |
| 78 | + |
| 79 | + - bug fix, FORMAT/BCSQ bitmasks could have been assigned incorrectly |
| 80 | + to some samples at multiallelic sites, a superset of the correct |
| 81 | + consequences would have been set (#1539) |
| 82 | + |
| 83 | + - bug fix, the upstream stop could be falsely assigned to all samples in |
| 84 | + a multi-sample VCF even if the stop was relevant for a single sample |
| 85 | + only (#1578) |
| 86 | + |
| 87 | + - further improve the detection of mismatching chromosome naming |
| 88 | + (e.g. "chrX" vs "X") in the GFF, VCF and fasta files |
| 89 | + |
| 90 | +* bcftools merge: |
| 91 | + |
| 92 | + - keep (sum) INFO/AN,AC values when merging VCFs with no samples (#1394) |
| 93 | + |
| 94 | +* bcftools mpileup: |
| 95 | + |
| 96 | + - new --indel-size option which allows to increase the maximum considered |
| 97 | + indel size considered, large deletions in long read data are otherwise |
| 98 | + lost. |
| 99 | + |
| 100 | +* bcftools norm: |
| 101 | + |
| 102 | + - atomization now supports Number=A,R string annotations (#1503) |
| 103 | + |
| 104 | + - assign as many alternate alleles to genotypes at multiallelic sites |
| 105 | + in the`-m +` mode, disregarding the phase. Previously the program |
| 106 | + assumed to be executed as an inverse operation of `-m -`, but when |
| 107 | + that was not the case, reference alleles would have been filled |
| 108 | + instead of multiple alternate alleles (#1542) |
| 109 | + |
| 110 | +* bcftools sort: |
| 111 | + |
| 112 | + - increase accuracy of the --max-mem option limit, previously the limit |
| 113 | + could be exceeded by more than 20% (#1576) |
| 114 | + |
| 115 | +* bcftools +trio-dnm: |
| 116 | + |
| 117 | + - new `--with-pAD` option to allow processing of VCFs without FORMAT/QS. |
| 118 | + The existing `--ppl` option was changed to the analogous `--with-pPL` |
| 119 | + |
| 120 | +* bcftools view: |
| 121 | + |
| 122 | + - the functionality of the option --compression-level lost in 1.12 |
| 123 | + has been restored |
| 124 | + |
| 125 | + |
1 | 126 | ## Release 1.13 (7th July 2021) |
2 | 127 |
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3 | 128 |
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