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Hi,
I am using the convert_SV_callers_vcf.pl for Delly and Lumpy(smoove) output files (BCF and VCF). It does not work for Delly and Lumpy output files. the files are empty or damaged files.
I am…
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We need to pull a series of data to inform which genes to look for variants in.
There is a[ google doc here](https://docs.google.com/spreadsheets/d/1yX-5sfrC3vrahf4_k7-5rl4Oqzm853ollIMmUo1PTc0/edit…
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Hi,
I was wondering if stragler is able to deal with repeat interruption.
For some diseases we can see interruptions of the repeats. Like for Huntington, where the normal repeat CAGCAGCAG... can …
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Initial notes on proposed scope and definition of these VA type, based on requirements and considerations documented [here](https://docs.google.com/document/d/1J4AqGDEqyK8KAzfiowgHYKJNvzHuwHSHgkN9dleL…
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This request was created from a contribution made by Mark Godek on May 28, 2020 12:43 UTC.
Link: https://gatk.broadinstitute.org/hc/en-us/community/posts/360067471451-Funcotator-cannot-complete-funco…
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chr5:112839840_112839842delGGCinsTGA b38
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**Is your feature request related to a problem? Please describe.**
Currently VariantValidator does not handle several complex variant types that the LOVD syntax checker can. These include, but are no…
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Hej, det kommer att bli ganska stor skillnad i den information som du
får från mongo-databasen Robin.
Om man ser på den data som detta anrop ger idag
http://clinical-db:8084/variants/77787685 så får …