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https://mp.weixin.qq.com/s/1OICS9af09wQct3-5FnV9g
ixxmu updated
2 years ago
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A group could be formed to discuss curation best practices, data model improvements, adoption of ClinGen (MVLD) and FDA proposals, ontologies, etc.
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Fails to collapse an allele that's also in ambiguous string. Reported by CVG.
For `C*02:ACMGS` allele code, it's expanding to `['C*02:02', 'C*02:29', 'C*02:69', 'C*02:70', 'C*02:83']` and reducing …
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Anthropogenic CH4 emissions for Canada are available for 2018 as described in Scarpelli et al. (2021, submitted). These emissions should be used in the standard CH4 simulation and will be used in the …
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Time: Jun 15, 2022 09:00 AM Stockholm
Zoom link: https://ki-se.zoom.us/j/64021668001?pwd=NXZzTjBNaUZsd0pybHBTVEtLYW5Mdz09
## Recent changes
- Dark mode and Bootstrap 5
- Allow marking case as so…
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Hi,
I am running the following command using docker (ensemblorg/ensembl-vep:release_93):
`vep -i input.vcf.gz -o output.ann.vcf --fasta genome.fa --format vcf --cache --dir_cache /path/to --cache_…
bb-so updated
2 years ago
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This issue specifically tracks the progress of adding and end-to-end script, as originally requested in https://github.com/ACMG-CH4/CH4_inversion_workflow/issues/10.
An initial (rough draft) versio…
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https://mp.weixin.qq.com/s/2Jey42bZuEGbltBVI5uG4g
ixxmu updated
2 years ago
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https://mp.weixin.qq.com/s/yqepdosnpYL45X2MFYWutA
ixxmu updated
2 years ago
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ACMG updated the list of secondary findings genes to 73 (Genetics in Medicine (2021) 23:1381–1390; https://doi.org/10.1038/s41436-021-01172-3)
- [ ] Change the name of _ACMG 59_ in the gene list to…