Author(s): Wang J, Mullighan CG, Easton J, Roberts S, Heatley SL,
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Abstract We developed 'clipping reveals structure' (CREST), an algorithm that uses next-generation sequencing reads with partial alignments to a reference genome to directly map structural variations at the nucleotide level of resolution. Application of CREST to whole-genome sequencing data from five pediatric T-lineage acute lymphoblastic leukemias (T-ALLs) and a human melanoma cell line, COLO-829, identified 160 somatic structural variations. Experimental validation exceeded 80\%, demonstrating that CREST had a high predictive accuracy.
This article was published in Nat Methods
and referenced in Journal of Next Generation Sequencing & Applications