nf-rare-var-assoc: a comprehensive genetic association pipeline with rich QC
Abstract
Genetic association analyses of exome sequencing data pose distinct methodological challenges in small cohorts, which are common in rare disease research. Data filtering prior to association testing requires particular care, especially when analyzing datasets generated under different study designs. Most of current genetic association tools need to be integrated into complex data processing pipelines, whose implementation requires technical expertise and is prone to error. To alleviate mentioned issues we built a comprehensive, high performance Nextflow workflow for genetic association testing, which includes all commonly performed data filtering and preparation steps, controlled by a rich set of modifiable parameters. We compared our software against existing tools incorporating quality control and aggregated association testing steps and found our solution to offer the most complete suite of data preparation, association testing and reporting modules, making small-cohort association analyses accessible to teams with limited technical expertise.
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BibTeX
@misc{suszynski2026nfrarevarassoc,
title = {{nf-rare-var-assoc: a comprehensive genetic association pipeline with rich QC}},
author = {P. M. Suszynski and T. Gambin},
howpublished = {bioRxiv},
year = {2026},
month = sep,
doi = {10.64898/2026.09.19.750380},
url = {https://www.biorxiv.org/content/10.64898/2026.09.19.750380v1},
note = {CC BY-NC-ND},
}
RIS
TY - UNPB
TI - nf-rare-var-assoc: a comprehensive genetic association pipeline with rich QC
AU - P. M. Suszynski
AU - T. Gambin
PY - 2026
DA - 2026/09/19
PB - bioRxiv
DO - 10.64898/2026.09.19.750380
UR - https://www.biorxiv.org/content/10.64898/2026.09.19.750380v1
AB - Genetic association analyses of exome sequencing data pose distinct methodological challenges in small cohorts, which are common in rare disease research. Data filtering prior to association testing requires particular care, especially when analyzing datasets generated under different study designs. Most of current genetic association tools need to be integrated into complex data processing pipelines, whose implementation requires technical expertise and is prone to error. To alleviate mentioned issues we built a comprehensive, high performance Nextflow workflow for genetic association testing, which includes all commonly performed data filtering and preparation steps, controlled by a rich set of modifiable parameters. We compared our software against existing tools incorporating quality control and aggregated association testing steps and found our solution to offer the most complete suite of data preparation, association testing and reporting modules, making small-cohort association analyses accessible to teams with limited technical expertise.
ER -