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Paper: https://www.nature.com/articles/ng.3862
Lots here to capture, someone will need to get into the supplemental data and try to track some of this down.
- Genome and annotation - 391 Mb of …
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Hi!
I (plus collaborators) would like to contribute schema for the description of genomic data. I have [posted about this](https://lists.w3.org/Archives/Public/public-schemaorg/2015Aug/0000.html) on …
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...but a reliable, consistent replication of the glitch is escaping me, so far.
HOME [tab] > Explore genomic data through the Viewer [heading] > View genome [button] > ADD CHANNELS [button]
HOME [ta…
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Hi dear Ensembl team,
I annotated SNPs/Indels using VEP with cache homo_sapiens_refseq/107_GRCh38. I wanted to calculate the mutation density on regions of CDS, UTR, Intron, IGR and Noncoding,respect…
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Hi
I'm trying to impute summary-stats data. I could run properly the harmonization pipeline, but it give me an error when I run the imputation script on chr1. I'm using Python/3.8.2-GCCcore-9.3.0 a…
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> BIOMEDICAL DATA TRANSLATOR TECHNICAL FEASIBILITY ASSESSMENT OF REASONING TOOL: UNIVERSITY OF ALABAMA AT BIRMINGHAM
>
> Our plan remains largely the same, except that we reserve the right to go be…
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Hi,
I am trying to use Whatshap to re-genotype variants I have obtained from DeepVariant across thousands of samples. Hence, my input of `whatshap genotype` is a joint VCF for X samples and X long…
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why there's no replacement / Maps to links in the OMOP Genomics?
35986591 OMOP5074729 EGFR protein: Substitution in position 790 Thr replaced by Met measurement
should be Mapped to
19576591 OMOP…
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**Lightning talk:** "phASE-Stitcher: A tool for phasing genome wide haplotype in F1 hybrids using Phase Informative Reads"
**Authors:** Bishwa K. Giri, Dr. David L. Remington
**Abstract:**
Next …
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Hi,
What is the maximum size of variants (e.g. deletion) VV can handle?
This
https://rest.variantvalidator.org:443/variantvalidator/hg19/chr1%3Ag.216210459_216266638del/all
raises an error for exa…