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Apparently due to error in API. Example: http://localhost:8008/variant/rs328?dataset=gnomad_r4
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On vcf.iobio.io the allele frequency spectrum chart shows every file's variants at 50%, rather than some distribution of their actual frequencies, from a source such as gnomAD. As a result, there is a…
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Let's switch around to give a build only for 37. Also fixes update from v3.1 to 4.0, but note that MT is not available for 4 just yet.
dnil updated
12 months ago
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Dear authors,
Thank you for developing such a great software. I am using severus to look at our own data, we only have tumor only sample, but in your pipeline, you mentioned the phased vcf should …
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Hello,
Benign allele frequency from GnomAD and other databases gives allele frequency starting from 0.01 and column with blank values. Does this mean these databases don't have allele frequency le…
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- allow definition of two cohorts (cases, controls)
- allow selection by age (add year of birth from GenLab and used it to calcuate age based on sequencing date of sample)
- allow definition of fi…
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Exomiser 10 - 13.2.1 use the following default frequency sources:
```yaml
frequencySources: [
THOUSAND_GENOMES,
TOPMED,
UK10K,
ESP_AFRICAN_AMERICAN, ESP_EUROPEAN_AMERICAN, ESP_ALL,
…
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16 | 2089662
-- | --
* For concerns about data, check the frequently asked questions
(https://gnomad.broadinstitute.org/help#frequently-asked-questions) or
send…
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### What you did:
Navigate to the question `What is the age distribution of in gnomAD` on the `help` page.
This bug currently happens on the live production gnomAD browser, in addition to in the c…
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```
installing ...
downloading from [download.molgeniscloud.org](http://download.molgeniscloud.org/): annotsv-3.0.9.sif ...
downloading from [download.molgeniscloud.org](http://download.molgenisclo…