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Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes.

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第一作者： Vahid,Akbari

第一单位： Canada's Michael Smith Genome Sciences Centre, Vancouver, British Columbia, Canada.;Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada.

作者： Vahid,Akbari ^[1] ; Sarah,Dada ^[2] ; Yaoqing,Shen ^[3] ; Katherine,Dixon ^[1] ; Duha,Hejla ^[4] ; Andrew,Galbraith ^[2] ; Sanaa,Choufani ^[5] ; Rosanna,Weksberg ^[6] ; Cornelius F,Boerkoel ^[7] ; Laura,Stewart ^[4] ; William T,Gibson ^[8] ; Steven J M,Jones ^[9]

作者单位： Canada's Michael Smith Genome Sciences Centre, Vancouver, British Columbia, Canada.;Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada. ^[1] Canada's Michael Smith Genome Sciences Centre, Vancouver, British Columbia, Canada.;Bioinformatics Graduate Program, The University of British Columbia, Vancouver, British Columbia, Canada. ^[2] Canada's Michael Smith Genome Sciences Centre, Vancouver, British Columbia, Canada. ^[3] BC Children's Hospital, Vancouver, British Columbia, Canada.;Division of Endocrinology, Department of Pediatrics, The University of British Columbia, Vancouver, British Columbia, Canada. ^[4] Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada. ^[5] Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.;Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada. ^[6] Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada.;BC Women's Hospital, Vancouver, British Columbia, Canada. ^[7] Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada.;BC Children's Hospital, Vancouver, British Columbia, Canada. ^[8] Canada's Michael Smith Genome Sciences Centre, Vancouver, British Columbia, Canada sjones@bcgsc.ca.;Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada.;Bioinformatics Graduate Program, The University of British Columbia, Vancouver, British Columbia, Canada. ^[9]

关键词 DNA Methylation Epigenomics Genetics, Medical Genomics Nanopore Sequencing