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The paper [Bar et al. 2017](https://pubmed.ncbi.nlm.nih.gov/27920058/) describes a proband with HGPS caused by a mosaic mutation and the mosaicism is the key point of the paper. We need to implement s…
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![bild](https://user-images.githubusercontent.com/12525201/74742279-98ab7b80-525e-11ea-98c7-269f5820f444.png)
the mutation is true positive, but it is NOT a mosaic.
Can the tag be moved in anothe…
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Hi,
It would be nice to have a link to the COSMIC database for the variants listed in the inherited analysis pipeline in Scout as it is in the somatic analysis pipeline today. Germline/mosaic varia…
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Hi,
I used DeepMosaic to detect mosaic SNVs from low-depth WGS data, because it supports low-depth samples, but DM does not call mosaic INDELs.
I would like to detect mosaic INDELs from ~30X WGS…
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Hello.
When i used MF in 2021, upon the genotype prediction steps, i was able to see the prediction to have such categories:-
> cat $file.genotype.predictions.refined.300721.bed | cut -f35 | so…
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I'm interested in modelling this ClinVar record:
https://www.ncbi.nlm.nih.gov/clinvar/RCV000087646/
I assume mosaicism is more accurately described as a mode of inheritance rather than a genotype,…
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Sample program, based on your README.MD
```python
import requests
import json
body_data = {"param": json.dumps({"text": "CLAPO syndrome: identification of somatic activating PIK3CA mutations and d…
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"semidominant"
e.g. https://search.clinicalgenome.org/kb/gene-validity/dd6376b1-1593-461f-bfc8-cec5cfb1c3f8--2020-02-26T17:00:00
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Pasteing text from 1-19-18 email thread between Daniel Perrett, Melissa Haendel, and Peter Robinson:
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Dear everybody
Daniel Perrett from the DECIPHER team is asking about terms …
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Hi,
I am quite puzzled about how to appropriately set the number of different types of mutations when simulating a human cancer genome.
Could you provide me with some guidance on this matter?
…