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If you look at the ClinVar track for MUC2, it annotates for a while, then comes back blank:
 should we expect from the output, if I use default parameters? For example,
${svim} alignment --read_names --zmws ${workdir} ${inputfile} …
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For the [disease series by gene pattern](https://github.com/monarch-initiative/mondo/blob/master/src/patterns/dosdp-patterns/disease_series_by_gene.yaml), we create terms that are labeled: [disease] …
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Hi,
is it possible for the program to detect in trans compound heterozygotes?
I have tested on several known examples from my families and unfortunately such variants have not been detected. Maybe I…
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I'm copying the text from a customer ticket by Emma Tham:
Dear Scout developers,
I have used the new SCOUT layout for the first time today and have a few issues I would like to give you feedback…
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Thank you for submitting an event to anvilproject.org!
To expedite your event's addition to https://anvilproject.org/events,
please provide the following package information. You can easily edit …
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## Describe the issue
I am trying to annotate a vcf with this record:
``` shell
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NHRI-SLY-AML-001_N NHRI-SLY-AML-001_T
…
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Hi
I am really interested in VPOT to prioritize variants. first I used the example provided (test data) it worked perfectly.
I have multiple VCF multiple patient samples, VPOT worked with two …