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I would like to submit a request that Orphanet include the term "KCNH1-Related Disorders" in your database. I was instructed to reach out to you directly from Gioconda Alyea at the National Organizati…
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Hi Brent
I notice that in .js file recommended for the rare diseases best practices pipeline, you have segregating-dominant, segregating-recessive and segregating-denovo functions, yet the pipeline…
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Create the category classes for rare diseases;
- Autoimmune / Autoinflammatory diseases
- Bacterial infections
- Behavioral and mental disorders
- Blood Diseases
- Chromosome Disorders
- Cong…
S2Ola updated
4 years ago
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We need to create some mondo subset files for use in KGs along the following lines:
- Rare disease subset
- Rare disease subset with leaf nodes representing variants in same gene rolled up to pare…
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In a recent meeting with Tony Hickey, external SME, he provided feedback on the Translator UI related to what he refers to as "convergent phenotyping", which is essentially the idea of leveraging shar…
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Dear all,
We received a request from a German coder who would like to code his patient with due to RAR-related Orphan Receptor B (RORB) gene mutation.
He refers to the following publication: htt…
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GARD is a rare disease vocabulary, and @newgene needs it in nodenorm to ingest a particular data set.
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# ORPHAcodes
## Background
Rare diseases include approximately 5,000 to 8,000 distinct conditions. Their prevalence is less than 1 in 2,000 individuals in the European Union and less than 1 in 1…
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https://elixir-europe-training.github.io/ELIXIR-TrP-FAIR-Converge/units/FAIR-generics/topics/1-why-fair/#topic-definition-and-scope Add a section on "role of relevant stakeholders". This came from the…
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Hello!
And thanks for creating such a nice tool! I have been trying to run wgmeth on a phased bam file, however it crashes with this error message:
2024-01-31 21:10:01,458 writing 2023-34375-05/20…