osx and dbNSFP

v0.1.5

• fix build on OSX (#18 from @sstadick)
• handle empty alts (#16 from @sstadick)
• add script for converting dbNSFP -> VCF -> echtvar encode

Get Started

To get started, download the static linux binary here, then chmod +x and execute:

wget -O ~/bin/echtvar https://github.com/brentp/echtvar/releases/download/v0.1.5/echtvar \
    && chmod +x ~/bin/echtvar \
   && ~/bin/echtvar -h 

Experienced rust users can build with cargo
Please let me know any (non SIGILL) issues with the binary. This is my first time distributing rust binaries.

Annotation files

you can create your own annotation files using echtvar encode. We provide a pre-made file for hg38 whole genomes from gnomad v3.1.2. It can be retrieved with:

curl -L -o gnomad.v3.1.2.echtvar.v2.zip https://surfdrive.surf.nl/files/index.php/s/nJPDxM3b9C7hkM2/download

The 7.1GB gnomad.v3.1.2.echtvar.v2.zip file is created using this example json

a smaller (2.5GB) file with only popmax AF is available with:

curl -L -o gnomad.v3.1.2.echtvar.popmax.v2.zip  https://surfdrive.surf.nl/files/index.php/s/LddbAYQAYPqtYu6/download