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After moving to v0.4 and exporting phenotypic data from Rare Disease patients (Solve-RD project context), these are the fields, mostly analytical results related to **molecular diagnosis**, that would…
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Good day Sir/Madam
this case shows some strange calls of STR ATXN8OS from the individuals in a trio. Example; 2019-22270-04 has 4 alleles/calls.
https://scout.scilifelab.se/cust002/F0028964-2/str/va…
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When running MToolBox on the example dataset (sim_data) provided, i met with the following error:
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I##### ASSEMBLING MT GENOMES WITH ASSEMBLEMTGENOME...
WARNING: values of tail < 5 are deprec…
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Welcome to the Scout user meeting @9:00-10:30 am Milkyway alfa 2, Scilifelab!
Please help us fill the agenda with topics that may interest you.
## Agenda
1. Match Maker Exchange (MME) integr…
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In RGP_256 an initial search with parameters: [Inheritance - Recessive, Location - DEGS1, Call Quality - GQ: 20, AB: 25] yields 16 variants: 12 intronic, 3 3prime UTR, and 1 frameshift
(search link:…
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Good morning,
I have a question about pymol. I understand the how hotspot3d predict the clusters. But when I read a paper “Pathogenic Germline Variants in 10,389 Adult Cancers”，Figure 7B in …
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Dear Dr Callahan,
I am relatively new to the use of R and Dada2 so I apologize in advance if my question does not make sense.
I am using Dada2 to looks for variants in 10 loci amplified by Illumin…
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I'm using SAGE v1.1 but it doesn't seem to output any variants for me. I'm using a human tumour-normal dataset in which I have some somatic SNV, MNV and indel calls that are pretty convincing (called …
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Hello. I'm CharGer user.
I appreciate your helpful program.
In this paper (Cell, 2018, 173, 355-370), this BRCA2 variant (Supplement xlsx file 2A, 13:g.32890660A>G) is one of pathogenic and rar…
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Evaluate concordance and determine overall set of high-confidence somatic variants for PBTA.