RDscan: A New Method for Improving Germline and Somatic Variant Calling Based on Read Depth Distribution.

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作者： Sunho,Lee ^[1] ; Seokchol,Hong ^[2] ; Jonathan,Woo ^[1] ; Jae-Hak,Lee ^[1] ; Kyunghee,Kim ^[1] ; Lucia,Kim ^[1] ; Kunsoo,Park ^[3] ; Jongsun,Jung ^[2]

作者单位： Genome Data Integration Centre, Syntekabio, Inc., Daejeon, Republic of Korea. ^[1] Department of Computer Science and Engineering, Seoul National University, Seoul, Republic of Korea. ^[2] Department of Pathology, Inha University Hospital, Incheon, Republic of Korea. ^[3]

关键词 germline variant next-generation sequencing read depth distribution somatic variant variant calling variant filtering

主题词算法(Algorithms);生殖细胞(Germ Cells);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);多态性, 单核苷酸(Polymorphism, Single Nucleotide);软件(Software)

DOI 10.1089/cmb.2021.0269

PMID 35749140

发布时间 2022-10-19

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