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collecting references and annotations --
1. [VarCover: Allele Min-Set Cover Software](https://www.sciencedirect.com/science/article/abs/pii/S1525157819304143)
>To facilitate reference-material s…
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Hi,
Are there reference files available to perform imputation on CHM13-v1 aligned data?
Also, would QUILT work on high-cvg (~35x) whole genome sequencing, to help find the very small number of mis…
gevro updated
2 years ago
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Why do we need to execute 'convert mouse gene identifiers to human ones that match data in GWAS summary data'? I don't quite understand. Are GWAS sources different from single-cell data sources?
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While running the wf-human-variation pipeline, ont-spectre produced an error implying that either the vcf file and reference files were empty or that the script did not load them correctly. I have at…
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Hi, with the help of Rob I managed to get a Rust BD Rhapsody analysis tool to work (https://github.com/stela2502/Rustody).
It supports all versions of BD's beads at the moment, but not the (new) whol…
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From the Quarto "Selecting GVCFs for Aggregation" page of the MVP Whole Genome Sequencing Data Release 2 book:
```
Metric: Average per base sequence quality
Has value: 118711
Passed: 118531
Fai…
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Hello ichorCNA team! I'd like to know if your softwar can also be used to analyze shallow whole genome sequencing data comming from tumor tissue samples (not cfDNA but solid samples of the actual tumo…
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### Name of the tool
`picard CollectWgsMetricsWithNonZeroCoverage`
### Tool homepage
https://github.com/broadinstitute/picard
### Tool description
Collect metrics about coverage and performance o…
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The journal article uses purified cancer cells (and does not state what flow cytometry markers were used for sorting by).
> ... with sample-matched, flow-sorted WGS.
The software user manual men…
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The package works by putting different input files into a list and processing them one at a time. This is very time-consuming if a user is processing cutaneous sqaumous cell carcninoma whole genome se…