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https://asia.ensembl.org/Homo_sapiens/Transcript/Summary?db=core;g=ENSG00000136250;r=7:36512941-36724494;t=ENST00000617537
Web page Reports that the sequence is 2385 bases long
Ensembl API is in…
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## Describe the issue
vep give different result when using multi-thread(--fork).
problem:
Some gene(like ENSG00000169047 or ENSG00000168769) will loss its refseq HGNC ID(near field EntrezGene) wh…
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The URL starting with 'ftp' is no longer accessible which causes a problem in get_genome and get_annotation in genome.smk.
To specify to use the URL starting with 'http' instead of 'ftp', 'url' param…
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I am using treeArches to train a tree for a single-tissue (thymus) subset of the Tabula Sapiens dataset (https://tabula-sapiens-portal.ds.czbiohub.org/).
I followed the training steps listed [here…
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I have downloaded data from Monarch Initiative (https://data.monarchinitiative.org/), specifically from the following sub sources:
- TSV: [TSV Data](https://data.monarchinitiative.org/latest/tsv/)
-…
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Hello, I'm a graduated student studying bioinformatics in South Korea.
I'm trying to do detect extrachromosomal DNA (ecDNA) in nanopore long-read targeted sequencing data.
I followed the workflow …
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Hello, I'm unable to install this tool. Please advise.
```
(anarci) jdv@delarge ~/code/ANARCI:
pip install .
Processing /Users/jdv/code/ANARCI
Preparing metadata (setup.py) ... done
Building…
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6_43519367_43519367_A_T
gets shown as None in gpsea for POLR1A
Variant Validotr (using GRCh38:6:43519367:A:T), shows
NM_203290.4:c.176A>T
BUT this is Homo sapiens RNA polymerase I and II…
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Hi, great effort maintaining the Ensembl releases for Bioconductor!
I was wondering if it makes sense to, in addition to the current Ensembl `GRCh38` release, also have _AnnotationHub_ entries for …
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Hi,
When I running this command :
`vcf2maf=/data/jiaf/wes_cancer/biosoft/vcf2maf/vcf2maf.pl
vep_path=~/miniconda3/envs/vep/bin/
GENOME=/data/jiaf/wes_cancer/biosoft/gsutil/gatk/hg19/v0/Homo_sapie…