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Is it possible to use CHM13 as a reference for AnnotSV? Even if current annotations are just lifted from GRCh38 to CHM13 it would be very useful. Thank you!
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Querying "what drugs may treat Postaxial Acrofacial Dysostosis (MIller Syndrome), the 2nd result is Brequinar, with two supporting paths. The second path chains 'brequinar causes decreased activity of…
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Note krub, please help filx the order of filter using the guideline below
1. Keep all known pathogenic variants from ClinVar
2. Filter on impact on gene function, using VEP IMPACT Prediction, keep…
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STRs as a new variant type to include in analysis.
We are making use of Small variants and SVs (see #372... 😞), but CPG already runs STRipy reports on all samples. We can use that as a source of in…
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We initially defined the variantOriginQualifier as refining the statement/annotated knowledge to indicate that it hold for variants of a particular genetic origin (e.g. germline vs. somatic).
It h…
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[InStrain enables population genomic analysis from metagenomic data and rigorous detection of identical microbial strains](https://www.biorxiv.org/content/10.1101/2020.01.22.915579v1)
Coexisting mi…
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Hi Thibaut,
I am trying to use snapclust for hybrids identification in a diploid plant pathogenic fungs.
I have genome-wide variants data of 110 individuals in a multi-sample vcf file.
I read th…
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Starting a new ticket specifically dedicated to the question of whether to lump or split representation of Variant Pathogenicity and Variant Oncogenicity Statement types.
This discussion was start…
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Maybe draw some diagrams to explain this. I will do the below, but be able to configure it, and we can change before SA Path deployment if people think so
OK - a question about structural variants (d…