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This **CRAM file** and **its reference** are identical to those I have in the cloud because I uploaded these exact files to the cloud after downloading them from the 1000 Genomes Project FTP site. Bac…
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Hi!
Do you have any benchmark for small indels 0-50? For eg. how does it compare to deepvariant?
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https://mp.weixin.qq.com/s/f1NWBti5IOMG5IQNjc7txw
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https://mp.weixin.qq.com/s/4jrCRUfOlw09IMBbCpCl7A
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Hi bro. Do I need to construct a reference genome for Dynascope's Multi_? What species does the test data correspond to?
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Hi
Thank you Alex for STAR, I've used it many times and it's worked great. However, I'm having an issue with remapping.
I've remapped a BAM file using STAR. My aim is to call mtDNA variants in …
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**Describe the bug**
I detected a de novo variant in trio with a different caller. I wanted to see if there are more or if Octopus can pick it up. So I ran Octopus on the Trio data. It's 30X WGS illu…
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Example: https://mila.quebec/en/publications/
It would be nice to reuse the same code as in the Mila website. Not sure if that's 'easily' possible via RTD
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Hi,
I have used Flye & Hapdup to make a haplotype-resolved assembly from Illumina-corrected ONT reads (haploid assembly made with Flye 2.9) and I am particularly interested in a large 32kb deletion…
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We want to study the inclusion of more resources that report relevant burden analyses results.
## Context
The gene_burden source currently collates the results of 2 analyses: REGENERON and AZ PheW…