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Some PM1 domain definitions are spanning intronic regions, ex;
chr10 89624265 89711937 P60484 1.0 83
chr10 89711949 89725067 P60484 1.0 83
These should be narrowed to cover the more accurate co…
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Hello,
I have run CPSR on some germline samples, and am looking at the biomarker section now. I see that class 4 and 5 variants overlapping the CIViC markers are considered, however, the biomarker…
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https://content.iospress.com/articles/translational-science-of-rare-diseases/trd027
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I am wondering if you can explain/look into how CADD scores are normalized to have a scale from 0-1 when used as a pathogenicity predictor. I have noticed that when I combine CADD with other tools, CA…
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- Add * to end of "Include pathogenic and likely pathogenic variants and variants with conflicting interpretations of pathogenicity" and add text beneath clinvar options but above submit button that …
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Dear Daianna,
Congrats for the paper. I am wondering if it is possible that you can share the missing documents using another repository, such as OSF or ZENODE. As far as I know the AlphaMissense_h…
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Dear Freebayes Developers,
I am asking for your advice on a set of in/del variants that Freebayes seems to miss. When running FB 1.3.8 in debugging mode with -dd switch, one can see that these vari…
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check final results for a release against original enigma classifications
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Currently, ClinVar variants with multiple interpretations are all labeled as "Conflicting interpretations of pathogenicity". On the variant page, details about each submission can be seen. On the gene…
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Write a function that runs against the mongodb to return variants with key/value pair matches.
Write a function that returns variants with allele frequency over some threshold.
> Identify all patien…