Junction Location Identifier (JuLI): Accurate Detection of DNA Fusions in Clinical Sequencing for Precision Oncology

Accurate detection of genomic fusions by high-throughput sequencing in clinical samples with inadequate tumor purity and formalin-fixed, paraffin-embedded tissue is an essential task in precise oncology. We developed the fusion detection algorithm Junction Location Identifier (JuLI) for optimization...

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Veröffentlicht in:	The Journal of molecular diagnostics : JMD 2020-03, Vol.22 (3), p.304-318
Hauptverfasser:	Shin, Hyun-Tae, Kim, Nayoung K D, Yun, Jae Won, Lee, Boram, Kyung, Sungkyu, Lee, Ki-Wook, Ryu, Daeun, Kim, Jinho, Bae, Joon Seol, Park, Donghyun, Choi, Yoon-La, Lee, Se-Hoon, Ahn, Myung-Ju, Park, Keunchil, Park, Woong-Yang
Format:	Artikel
Sprache:	eng
Schlagworte:	Algorithms Cell Line, Tumor Chromosome Breakpoints Clinical Decision-Making Computational Biology - methods DNA Damage Genetic Testing - methods Genetic Testing - standards Genomics - methods High-Throughput Nucleotide Sequencing - methods Humans Immunohistochemistry - methods Medical Oncology - methods Medical Oncology - standards Neoplasms - diagnosis Neoplasms - genetics Oncogene Proteins, Fusion - genetics Polymerase Chain Reaction Precision Medicine - methods Precision Medicine - standards Reproducibility of Results Sensitivity and Specificity Workflow
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