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Documentation updates for 0.3.12 release (Illumina#110)
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* Update RELEASES.md (Illumina#87)

* Updated RELASES.md and normalization.md (Illumina#109)
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Skola, Dylan authored and GitHub Enterprise committed Sep 24, 2019
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16 changes: 16 additions & 0 deletions RELEASES.md
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# Hap.py Release Notes / Change Log

## v0.3.12

| Ticket | Description |
|---------|------------------------------------------------------------------------------------|
| HAP-355 | Ensure compatibility with genome VCF from DRAGEN pipelines |
| HAP-356 | quantify module throws regex error |
| HAP-357 | Deal with change in Java license terms |
| HAP-359 | Hap.py crashes when ingesting variants genotyped as <NON_REF> |
| HAP-360 | Apply non-ref filter to truth set when --preprocess-truth is set |
| HAP-361 | Hap.py "blocksplit" processes still failing on DRAGEN gVCFs even with pre-filtering NON_REF genotypes
| HAP-362 | Hap.py blocksplit sometimes crashes with "invalid next size (fast)" error |
| HAP-363 | Use 'git describe' to obtain version number during Cmake |

## v0.3.11

| Ticket | Description |
|---------|------------------------------------------------------------------------------------|
| HAP-341 | Update rtgtools to 3.10.1 |
| HAP-342 | som.py output tables to quantify / GA4GH format |
| HAP-346 | src/sh/illumina-setup.sh out of date |
| HAP-352 | string formatting in som.py: last interval is always [1.0, 1.0] in *extended.csv |

## v0.3.10

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27 changes: 26 additions & 1 deletion doc/normalisation.md
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Expand Up @@ -16,7 +16,8 @@ usage: VCF preprocessor [-h] [--location LOCATIONS] [--pass-only]
[-T TARGETS_BEDFILE] [-L] [-D] [--bcftools-norm]
[--fixchr] [--no-fixchr] [--bcf] [-v] [-r REF]
[-w WINDOW] [--threads THREADS] [--force-interactive]
[--logfile LOGFILE] [--verbose | --quiet]
[--logfile LOGFILE] [--verbose | --quiet] [--filter-nonref]
[--convert-gvcf-truth] [--convert-gvcf-query]
input output
```

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that size are not expected to interfere).
```

The presence of the <NON_REF> symbolic allele in genome VCFs can cause problems
for hap.py, especially if it is part of a genotype. As a workaround, we
provide several options. Since variants genotyped as <NON_REF> cannot be
sensibly scored, the we provide the following option, which is safe to use
on both genome VCFs and standard VCFs:

```
--filter-nonref Remove any variants genotyped as <NON_REF>.
```

If hap.py still crashes when processing a genome VCF, we provide separate
options to perform on-the-fly conversion of a genome VCF to a standard VCF
by removing all <NON_REF> alleles and non-variant blocks. Note that this
also removes some fields from the INFO column. These options should only
be used on genome VCFs since attempting to convert a standard VCF will
cause all biallelic variants to be filtered out (most of them).

```
--convert-gvcf-truth Convert the truth genome VCF to a standard VCF.
--convert-gvcf-query Convert the query genome VCF to a standard VCF.
```

Runtime behaviour can also be controlled as follows:

```
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