A multi-platform reference for somatic structural variation detection

A multi-platform reference for somatic structural variation detection

Summary: Accurate detection of somatic structural variation (SV) in cancer genomes remains a challenging problem. This is in part due to the lack of high-quality, gold-standard datasets that enable the benchmarking of experimental approaches and bioinformatic analysis pipelines. Here, we performed s...

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Bibliographic Details
Main Authors: Jose Espejo Valle-Inclan, Nicolle J.M. Besselink, Ewart de Bruijn, Daniel L. Cameron, Jana Ebler, Joachim Kutzera, Stef van Lieshout, Tobias Marschall, Marcel Nelen, Peter Priestley, Ivo Renkens, Margaretha G.M. Roemer, Markus J. van Roosmalen, Aaron M. Wenger, Bauke Ylstra, Remond J.A. Fijneman, Wigard P. Kloosterman, Edwin Cuppen
Format: Article
Language:English
Published: Elsevier 2022-06-01
Series:Cell Genomics
Subjects:
structural variant
cancer
truth set
benchmarking
short sequencing read
long sequencing read
Online Access:http://www.sciencedirect.com/science/article/pii/S2666979X22000726

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http://www.sciencedirect.com/science/article/pii/S2666979X22000726

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