Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing.

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作者： My Linh,Thibodeau ^[1] ; Kieran,O'Neill ^[2] ; Katherine,Dixon ^[3] ; Caralyn,Reisle ^[2] ; Karen L,Mungall ^[1] ; Martin,Krzywinski ^[2] ; Yaoqing,Shen ^[2] ; Howard J,Lim ^[2] ; Dean,Cheng ^[2] ; Kane,Tse ^[4] ; Tina,Wong ^[2] ; Eric,Chuah ^[2] ; Alexandra,Fok ^[2] ; Sophie,Sun ^[2] ; Daniel,Renouf ^[2] ; David F,Schaeffer ^[3] ; Carol,Cremin ^[3] ; Stephen,Chia ^[4] ; Sean,Young ^[4] ; Pawan,Pandoh ^[5] ; Stephen,Pleasance ^[1] ; Erin,Pleasance ^[3] ; Andrew J,Mungall ^[4] ; Richard,Moore ^[5] ; Stephen,Yip ^[2] ; Aly,Karsan ^[2] ; Janessa,Laskin ^[2] ; Marco A,Marra ^[2] ; Kasmintan A,Schrader ^[2] ; Steven J M,Jones ^[5]

作者单位： Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada. ^[1] Canada's Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, BC, Canada. ^[2] Hereditary Cancer Program, BC Cancer, Vancouver, BC, Canada. ^[3] Department of Medical Oncology, BC Cancer, Vancouver, BC, Canada. ^[4] Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada. ^[5] Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada. ischrader@bccancer.bc.ca. ^[6] Hereditary Cancer Program, BC Cancer, Vancouver, BC, Canada. ischrader@bccancer.bc.ca. ^[7] Canada's Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, BC, Canada. sjones@bcgsc.ca. ^[8]

关键词 genome sequencing hereditary cancer long-read sequencing structural variants variant interpretation

主题词碱基序列(Base Sequence);疾病遗传易感性(Genetic Predisposition to Disease);基因组(Genome);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);人类(Humans);肿瘤(Neoplasms)

DOI 10.1038/s41436-020-0880-8

PMID 32624572

发布时间 2022-02-10

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