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VEP 111 uses wrongly substitution to describe a deletion of a single nucleotide for the HGVSg notation when the genotype is two alternative allele deletions in the given position. For instance, the ge…
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HW6 stuffs located at /work/binf8211/yct/HW6
file downloaded from NCBI at /work/binf8211/yct/HW6/ncbi
two way to identify variant
1. by click left panel to examine the answer for each question
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These are often used interchangeable or are confused, so I think in EDAM we're splitting hairs to be including both [DNA mutation](http://edamontology.org/topic_2533) and [DNA polymorphism](http://eda…
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# Allelic Variant Explorer demo
The Allelic Variation Explorer (AVE) is a web application to visualize (clustered) single-nucleotide variants across genomes.
There is a Docker image with the app…
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This is the first in several class content fields that originate from the dsp clinvar ingest stream that will need to be parsed and stored formally in the final transformed messages.
This first eleme…
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**sequence_alteration** needs a term or terms to refer to STR alleles ('microsatellites') that differ in repeat unit number from the reference. Existing terms under _sequence_alteration_\* are not app…
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Probably some error happened when ingesting this variant from `clinvar-raw` which wasn't checked for and didn't cause an exception, so the variation descriptor was still added, just with no variant. T…
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I've been of the opinion for some time that VRS would work to provide the basic structures to support the representation of all variation types by computational systems. As such we run into the consta…
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Dear hyphy community:
I'm a new one to use hyphy and going to use BUSTED-MH to estimate positive selection anaysis.
However, it runs too slowly, is there any ideas to push the running? BTW, my …
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Hi, about a year ago @hyunminkang mentioned that there would have been an upgrade on the genotyping strategy.
It seems nothing has happened (?)
Has anyone tried genotyping on 10x data to deconvo…