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Maybe do #758 first/same time
Anna B suggested:
* [Cancer hotspots](https://www.cancerhotspots.org/#/home)
* Onco KB (already there but not as quick links)
* Cancer bio (confirm link?)
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Writing some test cases for symbolic allele parsing, I've encountered some problems with the SV specifications when dealing with multiple SV alt alleles since only some fields support multiple alleles…
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Hello, I was performing the rare variant analysis using the sliding window approach. When running the pre-built pipeline, I have several questions that need your help. Thank you!
1. For each loop i…
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Hello Sir/Ma'am,
A very convincing normalisation approach well explained in the paper.
So we have the allele specific read count from Single-cell RNA seq data without a…
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On allele page for something on MT, eg CA337095804:
* Click on the g.HGVS in the GRCh37 or GRCh38 column
* Expected is to go to the variant page showing that build
* Instead, it loads your default bu…
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The VCF spec discusses symbolic alleles as `an angle-bracketed ID String “”` (in 1.6.1.4) but the overlapping deletion allele is `*`. I suspect that the intention is that the star allele be considered…
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Consider using the individual, sample, metadata, and variant core APIs as templates for a genotype + phenotype query language.
For example, we can ask for information about alleles in a specific coho…
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Hi,
I have generated a allele-specific segmentation file with CNVkit. I adapted the format to fit your input
"... allele-specific segmentation file with the following columns: 1st column: sample n…
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I was just wondering what might explain this....I have some spades assembled WGS sequences and I used the contigs as input for ngmaster. I upload the same contigs to pubmlst and get completely differe…
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Hi!
Thank you for providing this tool.
I encountered a minor issue while using GLnexus and would like to seek your guidance.
Initially, I used GLnexus to merge five datasets, each consisting …