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@brentp brentp released this 20 Jan 11:49
· 98 commits to main since this release
v0.1.0
8bd6464

This first release of echtvar is tested quite exhaustively. A script generates millions of overlapping indels and SNPs with distinct values. A test script then assures that values are annotated as expected (or not as the case may be).

⚠️ echtvar requires a precessor that supports SSE4.1 instructions. Using echtvar on an unsupported processor will result in a SIGILL.0

To get started, either download the static linux binary here, then chmod +x and execute; or use cargo build

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.zip https://surfdrive.surf.nl/files/index.php/s/O4mehMM7b3cmK9s/download

The 6.8GB gnomad.v3.1.2.echtvar.zip file is created using this example json

a smaller (2.3GB) file with only popmax AF is available with:

curl -L -o gnomad.v3.1.2.echtvar.popmax.zip  https://surfdrive.surf.nl/files/index.php/s/Mcgw9llnoR6f1xh/download
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