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new module: jvarkit vcf2table #6631

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merged 13 commits into from
Sep 20, 2024
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@lindenb lindenb commented Sep 12, 2024

This is a PR for jvarkit/vcf2table https://jvarkit.readthedocs.io/en/latest/VcfToTable/

(...)
 VEP
 +--------------------------+------+----------------+------------+-----------------+--------+------------------+-----------------------------------------------+-------------+---------+-----------------+----------------------+
 | PolyPhen                 | EXON | SIFT           | ALLELE_NUM | Gene            | SYMBOL | Protein_position | Consequence                                   | Amino_acids | Codons  | Feature         | BIOTYPE              |
 +--------------------------+------+----------------+------------+-----------------+--------+------------------+-----------------------------------------------+-------------+---------+-----------------+----------------------+
 | probably_damaging(0.956) | 8/9  | deleterious(0) | 1          | ENSG00000102967 | DHODH  | 346/395          | missense_variant                              | R/W         | Cgg/Tgg | ENST00000219240 | protein_coding       |
 |                          | 3/4  |                | 1          | ENSG00000102967 | DHODH  |                  | non_coding_exon_variant&nc_transcript_variant |             |         | ENST00000571392 | retained_intron      |
 |                          |      |                | 1          | ENSG00000102967 | DHODH  |                  | downstream_gene_variant                       |             |         | ENST00000572003 | retained_intron      |
 |                          |      |                | 1          | ENSG00000102967 | DHODH  |                  | downstream_gene_variant                       |             |         | ENST00000573843 | retained_intron      |
 |                          |      |                | 1          | ENSG00000102967 | DHODH  |                  | downstream_gene_variant                       |             |         | ENST00000573922 | processed_transcript |
 |                          |      |                | 1          | ENSG00000102967 | DHODH  | -/193            | intron_variant                                |             |         | ENST00000574309 | protein_coding       |
 | probably_damaging(0.946) | 8/9  | deleterious(0) | 1          | ENSG00000102967 | DHODH  | 344/393          | missense_variant                              | R/W         | Cgg/Tgg | ENST00000572887 | protein_coding       |
 +--------------------------+------+----------------+------------+-----------------+--------+------------------+-----------------------------------------------+-------------+---------+-----------------+----------------------+
 Genotypes
 +---------+------+-------+----+----+-----+---------+
 | Sample  | Type | AD    | DP | GQ | GT  | PL      |
 +---------+------+-------+----+----+-----+---------+
 | M10475  | HET  | 10,2  | 15 | 10 | 0/1 | 25,0,10 |
 | M10478  | HET  | 10,4  | 16 | 5  | 0/1 | 40,0,5  |
 | M10500  | HET  | 10,10 | 21 | 7  | 0/1 | 111,0,7 |
 | M128215 | HET  | 15,5  | 24 | 0  | 0/1 | 49,0,0  |
 +---------+------+-------+----+----+-----+---------+
 TRIOS
 +-----------+-----------+-----------+-----------+----------+----------+-----------+
 | Father-ID | Father-GT | Mother-ID | Mother-GT | Child-ID | Child-GT | Incompat. |
 +-----------+-----------+-----------+-----------+----------+----------+-----------+
 | M10475    | 0/1       | M10478    | 0/1       | M10500   | 0/1      |           |
 +-----------+-----------+-----------+-----------+----------+----------+-----------+
<<chr1/10001/T n 1

PR checklist

  • This comment contains a description of changes (with reason).
  • If you've fixed a bug or added code that should be tested, add tests!
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@lindenb lindenb requested a review from a team as a code owner September 12, 2024 14:32
@lindenb lindenb requested review from Aratz and removed request for a team September 12, 2024 14:32
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@SPPearce SPPearce left a comment

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Can we check the contents of the output file in some way, rather than just existence?
Another test to check the other output format and the regions or pedigree would be nice.
Should there also be something in the meta that says which tool gets which args.

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@lindenb
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lindenb commented Sep 20, 2024

@SPPearce back to you. I added a test to check the content of the output:

{ assert path(process.out.output[0][1]).text.startsWith(">>MT192765.1:197/G (n. 1)")},

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I'm a bit confused by the regions command.
Would be nice to test the bed file, but otherwise fine

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@lindenb lindenb added this pull request to the merge queue Sep 20, 2024
Merged via the queue into nf-core:master with commit 8af81e4 Sep 20, 2024
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@lindenb lindenb deleted the pl_jvarkit_vcf2table branch September 20, 2024 17:21
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2 participants