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- Website URL: https://rarediseases.info.nih.gov/
- License: ** Public domain**
- Desired ZIM Title: **Rare Diseases**
- Desired ZIM Description: **Rare diseases database**
- Desired ZIM Icon –pn…
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There was a blog post from MONARCH detailing how to parse the MONDO data to get "rare" disease classification
https://mondo.monarchinitiative.org/pages/analysis/
Jim Balhoff rewrote this blog post…
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Identify ways to share our findings, and get members of the rare disease community to engage with our resources (e.g. web apps).
# Stakeholders
- Researchers
- Healthcare providers (doctors, nurs…
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Background: EFO agrees that representation of rare diseases is unsatisfactory; MONDO has already taken steps to rectify the situation (https://github.com/monarch-initiative/mondo/issues/254). EFO may …
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Hello,
In the Rare genetic disease classification, ORPHA:268920 (Isolated megalencephaly) appears directly under the group of disorders ORPHA:269553 (Genetic cerebral malformation). Is this correct…
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Hello Dr. Strobes,
Very impressive method! I have a couple of questions regarding the Watershed tool.
From the [associated publication](https://www.science.org/doi/10.1126/science.aaz5900), the Wa…
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**Describe the bug**
Currently, mehari does not annotate tx on the MT chromosome.
```
curl 'http://mehari:8080/seqvars/csq?genome_release=grch37&chromosome=MT&position=73&reference=A&alternati…
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Hi! We received a message about this condition and I noticed that this is very rare in Europe and in the list of neglected tropical diseases. Please review to determine if it meets your criteria for …
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most people will run the rare-disease pipeline as-is. this can be made faster an easier with an interface like:
```
slivar rare-disease \
--min-depth 10 \
--ab 0.2 \
--min-gq 20 \
…
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The condition listed in MONDO: Weiss-Kruszka Syndrome MONDO:0032836 has exact match
https://omim.org/entry/618619 with dbxref OMIM:618619. It is not currently tagged as rare in MONDO but it is a ra…