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SeQuiLa-cov: A fast and scalable library for depth of coverage calculations

BACKGROUND: Depth of coverage calculation is an important and computationally intensive preprocessing step in a variety of next-generation sequencing pipelines, including the analysis of RNA-sequencing data, detection of copy number variants, or quality control procedures. RESULTS: Building upon big...

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Autores principales: Wiewiórka, Marek, Szmurło, Agnieszka, Kuśmirek, Wiktor, Gambin, Tomasz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6680061/
https://www.ncbi.nlm.nih.gov/pubmed/31378808
http://dx.doi.org/10.1093/gigascience/giz094
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author Wiewiórka, Marek
Szmurło, Agnieszka
Kuśmirek, Wiktor
Gambin, Tomasz
author_facet Wiewiórka, Marek
Szmurło, Agnieszka
Kuśmirek, Wiktor
Gambin, Tomasz
author_sort Wiewiórka, Marek
collection PubMed
description BACKGROUND: Depth of coverage calculation is an important and computationally intensive preprocessing step in a variety of next-generation sequencing pipelines, including the analysis of RNA-sequencing data, detection of copy number variants, or quality control procedures. RESULTS: Building upon big data technologies, we have developed SeQuiLa-cov, an extension to the recently released SeQuiLa platform, which provides efficient depth of coverage calculations, reaching >100× speedup over the state-of-the-art tools. The performance and scalability of our solution allow for exome and genome-wide calculations running locally or on a cluster while hiding the complexity of the distributed computing with Structured Query Language Application Programming Interface. CONCLUSIONS: SeQuiLa-cov provides significant performance gain in depth of coverage calculations streamlining the widely used bioinformatic processing pipelines.
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spelling pubmed-66800612019-08-07 SeQuiLa-cov: A fast and scalable library for depth of coverage calculations Wiewiórka, Marek Szmurło, Agnieszka Kuśmirek, Wiktor Gambin, Tomasz Gigascience Technical Note BACKGROUND: Depth of coverage calculation is an important and computationally intensive preprocessing step in a variety of next-generation sequencing pipelines, including the analysis of RNA-sequencing data, detection of copy number variants, or quality control procedures. RESULTS: Building upon big data technologies, we have developed SeQuiLa-cov, an extension to the recently released SeQuiLa platform, which provides efficient depth of coverage calculations, reaching >100× speedup over the state-of-the-art tools. The performance and scalability of our solution allow for exome and genome-wide calculations running locally or on a cluster while hiding the complexity of the distributed computing with Structured Query Language Application Programming Interface. CONCLUSIONS: SeQuiLa-cov provides significant performance gain in depth of coverage calculations streamlining the widely used bioinformatic processing pipelines. Oxford University Press 2019-08-05 /pmc/articles/PMC6680061/ /pubmed/31378808 http://dx.doi.org/10.1093/gigascience/giz094 Text en © The Author(s) 2019. Published by Oxford University Press. http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Technical Note
Wiewiórka, Marek
Szmurło, Agnieszka
Kuśmirek, Wiktor
Gambin, Tomasz
SeQuiLa-cov: A fast and scalable library for depth of coverage calculations
title SeQuiLa-cov: A fast and scalable library for depth of coverage calculations
title_full SeQuiLa-cov: A fast and scalable library for depth of coverage calculations
title_fullStr SeQuiLa-cov: A fast and scalable library for depth of coverage calculations
title_full_unstemmed SeQuiLa-cov: A fast and scalable library for depth of coverage calculations
title_short SeQuiLa-cov: A fast and scalable library for depth of coverage calculations
title_sort sequila-cov: a fast and scalable library for depth of coverage calculations
topic Technical Note
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6680061/
https://www.ncbi.nlm.nih.gov/pubmed/31378808
http://dx.doi.org/10.1093/gigascience/giz094
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