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I was wondering how STAR development will continue with regard to the new GRCh38/hg38 assembly and the existence of ALT contigs ([Reference 1](https://www.biostars.org/p/59126/) [Reference 2](http://w…
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The new Mutation Assessor v4 data has 208.7m variants.
Example data:
|uniprotId| SV |hgvspShort| F_score| F_impact| MSA| MAV
|--|--|--|--|--|--|--|
|P00519| 4|p.L25A|3.479676644421987|low|P00519.…
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We currently load ClinVar from separate GRCh37/38 VCFs
We should switch to the XML as it contains more variants and more info.
For analysis performance reasons we probably need it to continue to go …
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Hi there,
Thanks for this great tool. I noticed that, in both the HPRC reference release paper and the original paper describing this tool, you employ complex pre and post pangenie variant filterin…
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### Bugs
- [ ] Bed output file doesn't handle overlapping regions properly, just prints the first motif's output until an overlap with previous line no longer occurs. Such as **lines 3-5** below:
…
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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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Hello everyone, especially hg38 reference genome users!
Now bcbio has hg38 support for almost 5 years!
http://bcb.io/2015/09/17/hg38-validation/
However, many user were still on GRCh37/hg19, be…
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I have some curious observation that maybe you can help me with. I am using STITCH to impute ~1600 fish samples at variable levels of coverage (0.2x to 3x). These samples are F2 individuals from a com…
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Hi,
I was trying out LEVIATHAN for calling variants on a .bam file produced with LongRanger on linked-reads fastq files (TELL-seq technology). I have successfully built the LRez barcode indexes, but …
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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 …