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The description NC_000017.11(NM_000154.1):c.[700del];[(?_945-7)_(*64del_?)] describes allelic variants in the _GALK1_ gene leading galactokinase 1 deficiency. The first variant is a straightforward si…
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It has historically been common to simplify the depiction of an entire gene, operon, or gene cluster as a single glyph that is equivalent in form to that of the current SBOL CDS glyph.
![image](https…
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I'm trying to perform RNA velocity with kallisto, bustools and their wrapper kb-python following the instructions in [this R Notebook](https://bustools.github.io/BUS_notebooks_R/velocity.html). But I'…
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Hi, Thanks for providing the tools to facilitate the embedding extraction using different gLMs. However, I have a question for the Nucleotide Transformer embedder function.
for example, when I was …
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(METABOLIC-v4) lizhihua@lizhihua-T640:/media/lizhihua/software/METABOLIC-v4/METABOLIC$ ./run_to_setup.sh
tar (child): Accessory_scripts.tgz: Cannot open: No such file or directory
tar (child): Erro…
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Reviewing latest submissions on GISAID I noticed that a batch of sequences from BY-LGL seems to have a bioinformatics error:
Almost all sequences are frame shifted in S1 after S:70 due to there bei…
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Hi
I tried to run `idba_hybrid` in the following way:
```
$ fq2fa --paired out_mit.fq out_mit.fa
$ idba_hybrid --reference mit.fasta -l out_mit.fa -o `pwd`/idba-mit --num_threads 10 --pre_correction …
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Thanks for developing this great alignment processing tool.
I would be very interested if you could add an option that would allow to filter sites/columns in an alignment based on conservation across…
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International System for Human Cytogenomic Nomenclature (ISCN) has "x1", "x3", "x4" etc
x1 is a HGVS del
x3 is a HGVS dup
x4 on different chromosomes could be "homozygous for a dup" but if it is …
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Dear Yichao,
Thanks for sharing your repo with that much useful data/scripts! :)
Would you by chance also have the raw-data of your the .csv files stored under
`https://github.com/YichaoOU/easy_…