molgenis / vip

Variant Interpretation Pipeline
https://molgenis.github.io/vip/
GNU Lesser General Public License v3.0
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Bump HPO and GADO 20240208 to 20240404 #590

Closed dennishendriksen closed 6 months ago

dennishendriksen commented 6 months ago

note:

running tests ...
vcf/aip                                  | PASSED | 212601=completed test/output/vcf/aip/.nxf.log
vcf/chd7                                 | PASSED | 212602=completed test/output/vcf/chd7/.nxf.log
vcf/corner_cases                         | PASSED | 212603=completed test/output/vcf/corner_cases/.nxf.log
vcf/deb_register                         | PASSED | 212604=completed test/output/vcf/deb_register/.nxf.log
vcf/empty_input                          | PASSED | 212605=completed test/output/vcf/empty_input/.nxf.log
vcf/empty_output_filter_samples          | PASSED | 212606=completed test/output/vcf/empty_output_filter_samples/.nxf.log
vcf/empty_output_filter                  | PASSED | 212607=completed test/output/vcf/empty_output_filter/.nxf.log
vcf/filter_samples                       | PASSED | 212608=completed test/output/vcf/filter_samples/.nxf.log
vcf/liftover                             | PASSED | 212609=completed test/output/vcf/liftover/.nxf.log
vcf/multiproject_classify                | PASSED | 212610=completed test/output/vcf/multiproject_classify/.nxf.log
vcf/mvid                                 | PASSED | 212611=completed test/output/vcf/mvid/.nxf.log
vcf/str                                  | PASSED | 212612=completed test/output/vcf/str/.nxf.log
vcf/trio                                 | PASSED | 212613=completed test/output/vcf/trio/.nxf.log
vcf/vkgl_lb                              | PASSED | 212614=completed test/output/vcf/vkgl_lb/.nxf.log
vcf/vkgl_lp                              | PASSED | 212615=completed test/output/vcf/vkgl_lp/.nxf.log
done
# new
Ensg    Hgnc    Rank    Zscore  HP:0001250      HP:0001166
ENSG00000117713 ARID1A  1       4.675   3.174   3.437
ENSG00000148396 SEC16A  2       4.315   2.827   3.276
ENSG00000111087 GLI1    3       4.147   -0.647  6.512
ENSG00000180044 C3orf80 4       4.088   1.556   4.225
ENSG00000172534 HCFC1   5       4.064   2.67    3.078
ENSG00000173064 HECTD4  6       3.9     3.725   1.79
ENSG00000005339 CREBBP  7       3.894   3.104   2.403
ENSG00000204022 LIPJ    8       3.812   0.293   5.098
# current
Ensg    Hgnc    Rank    Zscore  HP:0001250      HP:0001166
ENSG00000117713 ARID1A  1       4.609   3.092   3.427
ENSG00000148396 SEC16A  2       4.344   2.837   3.307
ENSG00000111087 GLI1    3       4.152   -0.63   6.502
ENSG00000180044 C3orf80 4       4.107   1.604   4.204
ENSG00000172534 HCFC1   5       4.067   2.68    3.072
ENSG00000173064 HECTD4  6       3.909   3.744   1.785
ENSG00000005339 CREBBP  7       3.881   3.091   2.398
ENSG00000184470 TXNRD2  8       3.745   1.87    3.426
ENSG00000204022 LIPJ    9       3.741   0.215   5.076
#new
Ensg    Hgnc    Rank    Zscore  HP:0001627
ENSG00000198727 MT-CYB  1       5.056   5.056
ENSG00000212907 MT-ND4L 2       4.938   4.938
ENSG00000198804 MT-CO1  3       4.925   4.925
ENSG00000198899 MT-ATP6 4       4.711   4.711
ENSG00000198886 MT-ND4  5       4.711   4.711
ENSG00000198938 MT-CO3  6       4.642   4.642
ENSG00000198712 MT-CO2  7       4.613   4.613
ENSG00000198840 MT-ND3  8       4.427   4.427
ENSG00000198763 MT-ND2  9       4.304   4.304
ENSG00000198786 MT-ND5  10      4.059   4.059
#old
Ensg    Hgnc    Rank    Zscore  HP:0001627
ENSG00000198727 MT-CYB  1       5.103   5.103
ENSG00000212907 MT-ND4L 2       4.936   4.936
ENSG00000198804 MT-CO1  3       4.841   4.841
ENSG00000198886 MT-ND4  4       4.729   4.729
ENSG00000198899 MT-ATP6 5       4.686   4.686
ENSG00000198938 MT-CO3  6       4.572   4.572
ENSG00000198712 MT-CO2  7       4.561   4.561
ENSG00000198840 MT-ND3  8       4.412   4.412
ENSG00000198763 MT-ND2  9       4.352   4.352
ENSG00000198786 MT-ND5  10      4.021   4.021
#gado website
1   [KRTAP3-1](https://www.genenetwork.nl/gene/KRTAP3-1)    6.7 
6.7
2   [MYL7](https://www.genenetwork.nl/gene/MYL7)    6.3 
6.3
3   [MT-CYB](https://www.genenetwork.nl/gene/MT-CYB)    6.2 
6.2
4   [CASQ2](https://www.genenetwork.nl/gene/CASQ2)  6.1 
6.1
5   [MT-ND2](https://www.genenetwork.nl/gene/MT-ND2)    6.1 
6.1
6   [MT-ATP6](https://www.genenetwork.nl/gene/MT-ATP6)  6   
6
7   [MT-ND4](https://www.genenetwork.nl/gene/MT-ND4)    5.9 
5.9
8   [PRDX2P3](https://www.genenetwork.nl/gene/PRDX2P3)  5.9 
5.9
9   [MT-ND3](https://www.genenetwork.nl/gene/MT-ND3)    5.8 
5.8