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#### Which new datasets are being added with this release?
#### What is the sample breakdown (number of WGS, WXS, RNA-Seq, Panel, Methylation, other)?
https://d3b.atlassian.net/browse/BIXU-3767
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Hi,
I am currently evaluating Spectre for CNV calling on some GIAB HG002 ONT data and I encountered a few issues which I wasn't able to resolve myself.
Using mosdepth I tried to create required…
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inferCNV uses a [hidden markov model](https://github.com/broadinstitute/inferCNV/wiki/inferCNV-HMM-based-CNV-Prediction-Methods) to turn the smoothed gene expression into genomic regions that are subj…
grst updated
5 months ago
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I am trying to find malignant cells within all epithelial cells in a tumor tissue. I found [a paper ](https://aacrjournals.org/cancerres/article/81/11/3036/673612/A-TNFR2-hnRNPK-Axis-Promotes-Primary-…
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Hi I have a vcf with CNV (copy number variants) generated from CNVnator and I want to annotate it as gene-based. Could you please help me with this?
Thank you
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pbSV CNV calling
WisecondorX?
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@edmundmiller and friends :)
this is a placeholder to collect ideas to realise additional tutorials on use-cases of sarek
Variant Calling is currently being integrated (http://lescai-teaching.github.i…
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At https://github.com/imgag/megSAP/blob/a29981c561e27c9b4dc5a60bf95955d129235122/src/Pipelines/analyze.php#L735 and https://github.com/imgag/megSAP/blob/a29981c561e27c9b4dc5a60bf95955d129235122/src/Pi…
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Hi. I have a gene table (genomic locations of genes, 63086 rows × 4 columns) and a CNV table including genomic locations of Copy Number Variables (799505 rows × 5 columns; after segment mean filtering…
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Hello! I've been trying to use your software, but I only ever see global CNV changes - no hint of single cell changes.
I've tried changing the windows size between 1e5, 5e5, and 1e6, the minFrags …