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Hi,
I'm experimenting with running COMPASS (using CNVs) with multiple samples (3 samples), where the cells then come from different runs with MissionBio. A problem is that they got sequenced at dif…
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Dear ClinVar API Submitter,
Thank you for using the ClinVar Submission API! We are making changes to the API submission schema to support classifications of somatic variants. The details of the prop…
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Hi guys,
I get regular requests from collaborators to look if we have seen germline variants in a specific gene within our AFHCS or GA cohorts. I've created a 'Gene Search' analysis to have a quick…
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## Background
Currently there are multiple ways in which Variant ID and rsID are represented on the platform. Some examples are:
**1. OT Genetics widget**
 to download the ExAC VCF and whitelist known somatic events, will also inadvertently whitelist indels that overlap…
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There are hard treshholds in the scripts that filters false positive somatic SNVs/indels. These pertain to the read depth, allele counts and fraction as well as gnomAD population frequencies and PoN c…
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Clinical Significance - current clinical significance does not adequately support the needs for somatic variant information.
- Current set of values defined by LOINC
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I open this ticket for our own records an…
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HI ,
PHMM can not work in somatic variants calling ?
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Hi Ryan,
I've read your posts on using SVTyper to help with somatic variant filtering. You suggested only keeping variants that have a non-reference genotype in the tumor (GT != 0/0) and variants t…
mej54 updated
6 years ago