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I'm trying to replicate for benchmarking a few results from the 2020 manuscript and a list of TSS is necessary (for example https://journals.plos.org/ploscompbiol/article?id=10.1371/journal.pcbi.10080…
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Example use cases:
- I want to see all genes (civic id, entrez id, symbol) for which we have evidence items
- I want to see all publications from which we've extracted evidence items
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Hi Jody, i am trying to integrate tb-profiler 6.3.0 in our WGS pipeline, but i cannot get it to run as a standalone package. I have pulled the latest singularity image from bioconda and i get the foll…
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As part of adding a Provisional Evidence subtile, we want to add a description to the [Allele Frequency Reference Sets Tile help section](https://brcaexchange.org/help#allele-frequency-reference-sets)…
e-t-k updated
4 months ago
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## Background
Currently, users can view different features (genes, transcripts, exons, etc.) at a genome and their info only at GENE tracks.
It would be convenient to have an ability to view all f…
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Dear raremetal developers,
I really appreciate the work you are doing to develop and maintain raremetal. I am reaching out because I need some help to understand raremetal behaviour.
Recently, I…
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Use this issue to accumulate citations of paper that are relevant to the project. Cite papers in the following format:
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APA citation, ending with DOI.
Brief summary.
Reaso…
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Consider the following pattern:
(subject:gene)(object:disease)
Where relation is one of:
1. pathogenic
2. likely pathogenic
3. has phenotype
4. marker/mechanism
5. contributes to
...
In…
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Edit: despite the title this link list now contains all kinds of reference material for benchmarking/normal-filtering SV (including CNV) calls on a population level as well on single sample (mostly ce…
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Some MGI symbols are not rendering correctly on the variant summary pages. For example:
https://monarchinitiative.org/phenotype/GO:0006915PHENOTYPE#variants
On the above page, there are a mix of…