01 GRIDSS：使用基于位置的deBruijn图组装进行基因组重排敏感和特异性的检测软件。GRIDSS:sensitive and specific genomic rearrangement detection using positional deBruijn graph assembly(Genome Research）Abstract The identification of genomic rearrangements with high sensitivity and specificity using massively parallel sequencing remains a major challenge, particularly in precision medicine and cancer research. Here, we describe a new method for detecting rearrangements, GRIDSS (Genome Rearrangement IDentification Software Suite). GRIDSS is a multithreaded structural variant (SV) caller that performs efficient genome-wide break end assembly prior to variant calling using a novel positional de Bruijn graph based assembler. By combining assembly, split read, and
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