Scalable and efficient DNA sequencing analysis on different compute infrastructures aiding variant discovery.

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Hanssen F, Garcia MU, Folkersen L, Pedersen AS, Lescai F, Jodoin S, Miller E, Seybold M, Wacker O, Smith N, Gabernet G, Nahnsen S

NAR Genomics and Bioinformatics 6 (2) lqae031 [2024-06-00; online 2024-04-25]

DNA variation analysis has become indispensable in many aspects of modern biomedicine, most prominently in the comparison of normal and tumor samples. Thousands of samples are collected in local sequencing efforts and public databases requiring highly scalable, portable, and automated workflows for streamlined processing. Here, we present nf-core/sarek 3, a well-established, comprehensive variant calling and annotation pipeline for germline and somatic samples. It is suitable for any genome with a known reference. We present a full rewrite of the original pipeline showing a significant reduction of storage requirements by using the CRAM format and runtime by increasing intra-sample parallelization. Both are leading to a 70% cost reduction in commercial clouds enabling users to do large-scale and cross-platform data analysis while keeping costs and CO2 emissions low. The code is available at https://nf-co.re/sarek.

PubMed 38666213

DOI 10.1093/nargab/lqae031

Crossref 10.1093/nargab/lqae031

pmc: PMC11044436
pii: lqae031