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Metapipeline-DNA: A Comprehensive Germline & Somatic Genomics Nextflow Pipeline

Yash Patel, Chenghao Zhu, Takafumi N Yamaguchi, Nicholas K Wang, Nicholas Wiltsie,Alfredo E Gonzalez, Helena K Winata, Nicole Zeltser, Yu Pan, Mohammed Faizal Eeman Mootor, Timothy Sanders,Cyriac Kandoth,Sorel T Fitz-Gibbon,Julie Livingstone,Lydia Y Liu, Benjamin Carlin, Aaron Holmes, Jieun Oh, John Sahrmann, Shu Tao,Stefan Eng,Rupert Hugh-White, Kiarod Pashminehazar, Andrew Park, Arpi Beshlikyan, Madison Jordan, Selina Wu,Mao Tian, Jaron Arbet, Beth Neilsen, Yuan Zhe Bugh, Gina Kim, Joseph Salmingo, Wenshu Zhang, Roni Haas, Aakarsh Anand, Edward Hwang, Anna Neiman-Golden, Philippa Steinberg, Wenyan Zhao, Prateek Anand,Brandon L Tsai,Paul C Boutros

bioRxiv the preprint server for biology(2024)

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摘要
Summary: DNA sequencing is becoming more affordable and faster through advances in high-throughput technologies. This rise in data availability has contributed to the development of novel algorithms to elucidate previously obscure features and led to an increased reliance on complex workflows to integrate such tools into analyses pipelines. To facilitate the analysis of DNA sequencing data, we created metapipeline-DNA, a highly configurable and extensible pipeline. It encompasses a broad range of processing including raw sequencing read alignment and recalibration, variant calling, quality control and subclonal reconstruction. Metapipeline-DNA also contains configuration options to select and tune analyses while being robust to failures. This standardizes and simplifies the ability to analyze large DNA sequencing in both clinical and research settings. Availability: Metapipeline-DNA is an open-source Nextflow pipeline under the GPLv2 license and is freely available at https://github.com/uclahs-cds/metapipeline-DNA.
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