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We are trying to use genotyping arrays (Axiom) to get VCFs for demuxlet.
Are there any recommended steps / tutorials for SNP cleaning and filtering to optimise the demuxlet yield?
We are curren…
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# Allelic Variant Explorer demo
The Allelic Variation Explorer (AVE) is a web application to visualize (clustered) single-nucleotide variants across genomes.
There is a Docker image with the app…
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Add a database and model constraint to ensure a source must have a citation id.
Remove the erroneous source 2841, flag or fix EIDs impacted and add test cases to ensure evidence cannot be submitte…
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H-MAGMA https://doi.org/10.1038/s41593-020-0603-0
eMAGMA https://doi.org/10.1101/854315
Enhancer to Gene connections https://doi.org/10.1101/2020.09.01.278093
RegulomeDB v2.0 https://regulomedb.org…
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It has been requested several times to be able to group gene databases together under a group or LSDB, within one LOVD3 instance. This is particularly useful for LOVD2 databases that used to have thei…
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"This resource consists of mouse sperm lines for ENU-induced single-SNV mutations across more than 10,000 genes. In total there are over 250,000 SNVs that have been computationally predicted for effec…
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If you look at network tab, you'll see that all requests eventually resolve but the spinner never goes away. Please investigate why that is. My hunch is that the genome nexus call (20s) is not being…
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**Is your feature request related to a problem? Please describe.**
We need to create a minimal germline variant calling pipeline use case setup here
- https://github.com/bihealth/snappy-use-case-g…
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Hi dear Ensembl team,
I annotated SNPs/Indels using VEP with cache homo_sapiens_refseq/107_GRCh38. I wanted to calculate the mutation density on regions of CDS, UTR, Intron, IGR and Noncoding,respect…
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[Posted](https://the-tgg.slack.com/archives/CDZKGBFDL/p1629291176001600) in Slack yesterday by Michael:
1. Benchmarking our phasing accuracy against phasing using programs like Eagle. Perhaps suffici…