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. 2022 May 9;17(5):e0259327.
doi: 10.1371/journal.pone.0259327. eCollection 2022.

EZTraits: A programmable tool to evaluate multi-site deterministic traits

Matt Carland  1 , Haley Pedersen  1 , Madhuchanda Bose  1 , Biljana Novković  1 , Charles Manson  1 , Shany Lahan  1 , Alex Pavlenko  1 , Puya G Yazdi  1 , Manfred G Grabherr  1
Affiliations

EZTraits: A programmable tool to evaluate multi-site deterministic traits

Matt Carland et al. PLoS One. .

Abstract

The vast majority of human traits, including many disease phenotypes, are affected by alleles at numerous genomic loci. With a continually increasing set of variants with published clinical disease or biomarker associations, an easy-to-use tool for non-programmers to rapidly screen VCF files for risk alleles is needed. We have developed EZTraits as a tool to quickly evaluate genotype data against a set of rules defined by the user. These rules can be defined directly in the scripting language Lua, for genotype calls using variant ID (RS number) or chromosomal position. Alternatively, EZTraits can parse simple and intuitive text including concepts like 'any' or 'all'. Thus, EZTraits is designed to support rapid genetic analysis and hypothesis-testing by researchers, regardless of programming experience or technical background. The software is implemented in C++ and compiles and runs on Linux and MacOS. The source code is available under the MIT license from https://github.com/selfdecode/rd-eztraits.

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Conflict of interest statement

All authors are either employed by and/or hold stock or stock options in SelfDecode. In addition, PGY has equity in Systomic Health LLC and Ethobiotics LLC. This does not alter our adherence to PLOS ONE policies on sharing data and materials. There are no other relevant activities or financial relationships which have influenced this work.

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