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We need to create some mondo subset files for use in KGs along the following lines:
- Rare disease subset
- Rare disease subset with leaf nodes representing variants in same gene rolled up to pare…
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Really like your paper related to this code (Deep learning-based identification of genetic variants: application to Alzheimer’s disease classification) and am interested in trying something similar on…
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Hi,
I'm wondering how the genetic variants on CpG sites are treated by aligned_bam_to_cpg_scores.
For example, when a diploid genome has a heterozygous SNP on a CpG site, how will the coverage and…
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Hi there, thanks for this great tool!
About the demonstration of gwaslab, I have one little question about gwas analysis.
Certain gwas results may represent sproadic signals across whole genome, l…
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Hi all,
Thanks for developing a fantastic tool for the community. I'm running into a liftOver issue [within another package](https://github.com/neurogenomics/MungeSumstats/issues/104), and thought…
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Hi Prof. Xijin,
I am proposing to use iDEP for pathway analysis in a multi-omics model. We have RNA seq gene expression, DNA methylation and genetic variants SNPs data. I am wondering if I can use…
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The additional meta-data on genetic variants is very limited. A detailed encoding of genetic variants is required which we then reference when encoding genetic variants of genes. Pharmvar just lunched…
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Users may want to specify genetic changes that are relevant to a MAVE (e.g. a haplotype with variation that's not at the mutagenized locus or a risk allele that's present in the cell line).
We can …
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Sub-ticket for gnomAD v4 update #47
The goal of this ticket is to do the "like for like" update of the VCI population tab from gnomAD v2 to v4 data, along with deprecating a few sections of the po…
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# Problem to be resolved
How best should we represent key findings from sequence analyses? The solution should be comprehensive enough to support variations.
# Ideal solution
Work is ongoing to …