期刊
NATURE METHODS
卷 8, 期 8, 页码 652-U69出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/NMETH.1628
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资金
- St. Jude Children's Research Hospital-Washington University
- US National Cancer Institute [P30 CA021765]
- American Lebanese Syrian Associated Charities of St. Jude Children's Research Hospital
- Pew Scholar in the Biomedical Sciences
- Haematology Society of Australasia
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.
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