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Hi!
I hope to run Souporcell on 709 cells generated from plate-based RNA-seq, in lieu of the 10x Genomics in which Souporcell is initially meant for. This dataset consist of high coverage cells of …
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Hi! I have been reading the documentation and some of your answers in forums. I understand that it is possible to calculate the PRS score for a single individual using the PGS Catalog files. I have tr…
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Hi!
after a meeting with Micke, Nicole and Anna Wedell,
it has come up that it could be very usefull if in scout there is the information about the informed consent. We have made a suggestion on ho…
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missense tolerance ratio (MTR) uses GNOMAD data to assess whether certain regions of proteins are susceptible to disease-causing missense variants.
- http://mtr-viewer.mdhs.unimelb.edu.au/
- https:/…
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Some data sources provide only very broad location information about a sequence alteration (i.e at the level of a chromosome region instead of within a specific gene/marker). @nlwashington can provid…
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I noticed some inconsistencies between public cBioPortal and MSK cBioPortal regarding structural variant data. I'm also not able to pull structural variant data anymore via the API endpoint for these …
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The existing [SARS-CoV-2 variant analysis] tutorial is focused on the analysis of metagenomic sequencing data. The majority of data being produced, however, uses the ARTIC amplicon protocol (for Illum…
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[CA658659094](https://reg.genome.network/redmine/projects/registry/genboree_registry/by_caid?caid=CA658659094) is on MT (which is contig NC_012920.1 - same on both builds)
However, it only lists it…
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## Documentation request
I am trying to follow the germline joint variant best practices and am confused by the steps/examples and how it would work using real WGS or WXS data in a parallelized setti…
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I noticed while making one of my custom lists that the tool doesn't always seem to pick the canonical transcript.
I made [this list](https://genie.broadinstitute.org/variant-lists/0e40430f-3b75-4…