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I am wondering if it would be possible to make this change since [this could present a problem](https://stackoverflow.com/a/71929821) with trying to scan tags with a BT 5.x device.
Not exacly sure …
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Hello,
I have noticed that when running LOFTEE, the LoF_flags are not being properly annotated; they are always blank in the output. So, for instance, rs201677741 from the ExAC vcf is annotated by…
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ExAC _pLI scores_ have been replaced by _pLoF (oe) scores_ in gnomAD, you can find more info at https://macarthurlab.org/2018/10/17/gnomad-v2-1/
_With gnomAD, we have shifted from using the probab…
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I am using the liftOver tool on the chain file ftp://ftp.ensembl.org/pub/assembly_mapping/homo_sapiens/GRCh37_to_GRCh38.chain.gz
The script which does the liftOver is here:
https://github.com/vplagnol…
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Since Godot documentation says absolutely nothing about how the pck file is created/packed and how exacly scripts are "compiled", a huge number of developers will be very grateful if at least somewher…
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Wondering if you are using site filters? As letting in too many bad indels will inflate the frameshift/lof frequencies
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Hi,
I successfully install and test ExAC browser by following instructions from readme.
However, I want to try it by loading my VCF files (custom variants) into mongodb and show them on ExAC br…
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When searching for specific variants, if the variant is not present in ExAC the use would get a page that stated it was not present and also provided the coverage for that region. This was helpful be…
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Hello, is there a way of retrieving the constraint metrics table through the ExAC REST API? I'm particularly interested in the expected missense and synonymous variant frequencies for one of my projec…