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I'd like to request a term for neurodevelopmental disorder with microcephaly and spastic paraplegia.
OMIM: https://www.omim.org/entry/616281
Potential definition: Neurodevelopmental disorder wit…
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Hi, I'm working on how to use llm2vec, it's really an interesting thing to work on!
However, in my application, I found a problem that the relationship between batch size and running time is a little…
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Although tests seem to pass locally, it seems that commits cause a test failure on the automatic testing instance:
https://github.com/RTXteam/RTX/actions/runs/7225709946/job/19689713862
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We are currently developing our match scoring system. We are findng that phenotypic and genotypic matches may be very different, and that combining the score into a single score leaves out some import…
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Hi there,
Thanks for the package.
Having some issues with a human dataset that had human ensembl ids that I had to convert to HGNC symbols for Cytotrace 2.
Here's the error:
cytotrace2: St…
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- [x] Query UTA for all transcripts that have alignments overlapping our alignment using the hit locations and chromosome obtained from BLAT Alignment.
- [x] From those transcripts, select for those …
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While correcting some mistakes in some examples, I ran into [this one](https://github.com/HGVSnomenclature/hgvs-nomenclature/blame/3f61cfd6f2df135da4212519f546334de93d42c8/docs/recommendations/DNA/all…
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Hi,
Apologies in advance but I am not a bioinformatician, so this question may be very naive! Although, I have consulted with our group's bioinformatician and he also has the same issue.
When we…
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I'd like to request a term for glutamine deficiency, congenital (this is what OMIM uses but less awkward terms are available, see below). Whether this should be two separate diseases or not, I will le…
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I'd like to request a term for 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
OMIM: https://www.omim.org/entry/246450
Potential definition: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency has_…