Consistent count region-copy number variation (CCR-CNV): an expandable and robust tool for clinical diagnosis of copy number variation at the exon level using next-generation sequencing data-论文-万方医学网

Consistent count region-copy number variation (CCR-CNV): an expandable and robust tool for clinical diagnosis of copy number variation at the exon level using next-generation sequencing data

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作者： Kim, Man Jin ^[1] ; Lee, Sungyoung ^[2] ; Yun, Hongseok ^[3] ; Cho, Sung Im ; Kim, Boram ; Lee, Jee-Soo ; Chae, Jong Hee ; Sun, Choonghyun ; Park, Sung Sup ; Seong, Moon-Woo

作者单位： Seoul Natl Univ Hosp,Seoul Natl Univ ^[1] Genome Opin Inc ^[2] Ctr Precis Med,Seoul Natl Univ Hosp ^[3]

关键词 Copy number variation Germline Molecular genetics Targeted gene panel clinical sequencing STRUCTURAL VARIATION GENE VARIANTS PANEL

发布时间 2022-07-13

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Consistent count region-copy number variation (CCR-CNV): an expandable and robust tool for clinical diagnosis of copy number variation at the exon level using next-generation sequencing data

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Consistent count region-copy number variation (CCR-CNV): an expandable and robust tool for clinical diagnosis of copy number variation at the exon level using next-generation sequencing data

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