Article
Comprehensive characterization of complex structural variations in cancer by directly comparing genome sequence reads.
Nature biotechnology - 1 Nov 2014
Moncunill Valentí, Gonzalez Santi, Beà Sílvia, Andrieux Lise O, Salaverria Itziar, Royo Cristina, Martinez Laura, Puiggròs Montserrat, Segura-Wang Maia, Stütz Adrian M, Navarro Alba, Royo Romina, Gelpí Josep L, Gut Ivo G, López-Otín Carlos, Orozco Modesto, Korbel Jan O, Campo Elias, Puente Xose S, Torrents David
Abstract excerpt
The development of high-throughput sequencing technologies has advanced our understanding of cancer. However, characterizing somatic structural variants in tumor genomes is still challenging because current strategies depend on the initial alignment of reads to a reference genome. Here, we describe SMUFIN (somatic mutation finder), a single program that directly compares sequence reads from normal and tumor...
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