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- [33] VEGAWES: variational segmentation on whole exome sequencing for copy number detectionBMC Bioinformatics, 16Samreen Anjum论文数: 0 引用数: 0 h-index: 0机构: Qatar Computing Research Institute,Computational Sciences and EngineeringSandro Morganella论文数: 0 引用数: 0 h-index: 0机构: Qatar Computing Research Institute,Computational Sciences and EngineeringFulvio D’Angelo论文数: 0 引用数: 0 h-index: 0机构: Qatar Computing Research Institute,Computational Sciences and EngineeringAntonio Iavarone论文数: 0 引用数: 0 h-index: 0机构: Qatar Computing Research Institute,Computational Sciences and EngineeringMichele Ceccarelli论文数: 0 引用数: 0 h-index: 0机构: Qatar Computing Research Institute,Computational Sciences and Engineering
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- [37] Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysisEUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (10) : 1121 - 1131Ewans, Lisa J.论文数: 0 引用数: 0 h-index: 0机构: Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Sydney, NSW, Australia Sydney Childrens Hosp, Ctr Clin Genet, Sydney, NSW, Australia Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, AustraliaMinoche, Andre E.论文数: 0 引用数: 0 h-index: 0机构: Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Sydney, NSW, Australia Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, AustraliaSchofield, Deborah论文数: 0 引用数: 0 h-index: 0机构: Macquarie Univ, Ctr Econ Impacts Genom Med, Macquarie Business Sch, Sydney, NSW, Australia Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, AustraliaShrestha, Rupendra论文数: 0 引用数: 0 h-index: 0机构: Macquarie Univ, Ctr Econ Impacts Genom Med, Macquarie Business Sch, Sydney, NSW, Australia Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, AustraliaPuttick, Clare论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Sydney, NSW, Australia Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, AustraliaZhu, Ying论文数: 0 引用数: 0 h-index: 0机构: Genet Learning Disabil Serv, Newcastle, NSW, Australia Prince Wales Hosp, Randwick Genom Lab, NSW Hlth Pathol, Sydney, NSW, Australia Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, AustraliaDrew, Alexander论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Sydney, NSW, Australia Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, AustraliaGayevskiy, Velimir论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Sydney, NSW, Australia Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, AustraliaElakis, George论文数: 0 引用数: 0 h-index: 0机构: Prince Wales Hosp, Randwick Genom Lab, NSW Hlth Pathol, Sydney, NSW, Australia Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, AustraliaWalsh, Corrina论文数: 0 引用数: 0 h-index: 0机构: Prince Wales Hosp, Randwick Genom Lab, NSW Hlth Pathol, Sydney, NSW, Australia Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, AustraliaAdes, Lesley C.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Dept Clin Genet, Sydney, NSW, Australia Univ Sydney, Discipline Child & Adolescent Hlth, Sydney, NSW, Australia Univ Sydney, Discipline Genom Med, Sydney, NSW, Australia Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, AustraliaColley, Alison论文数: 0 引用数: 0 h-index: 0机构: Liverpool Hosp, Clin Genet Dept, Sydney, NSW, Australia Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, AustraliaEllaway, Carolyn论文数: 0 引用数: 0 h-index: 0机构: Sydney Childrens Hosp, Ctr Clin Genet, Sydney, NSW, Australia Univ Sydney, Discipline Child & Adolescent Hlth, Sydney, NSW, Australia Univ Sydney, Discipline Genom Med, Sydney, NSW, Australia Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, AustraliaEvans, Carey-Anne论文数: 0 引用数: 0 h-index: 0机构: Prince Wales Hosp, Randwick Genom Lab, NSW Hlth Pathol, Sydney, NSW, Australia UNSW, Neurosci Res Australia NeuRA, Sydney, NSW, Australia UNSW, Prince Wales Clin Sch, Sydney, NSW, Australia Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, AustraliaFreckmann, Mary-Louise论文数: 0 引用数: 0 h-index: 0机构: Royal North Shore Hosp, Clin Genet, Sydney, NSW, Australia Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, AustraliaGoodwin, Linda论文数: 0 引用数: 0 h-index: 0机构: Nepean Hosp, Genet Serv, Sydney, NSW, Australia Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, AustraliaHackett, Anna论文数: 0 引用数: 0 h-index: 0机构: Genet Learning Disabil Serv, Newcastle, NSW, Australia Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, AustraliaKamien, Benjamin论文数: 0 引用数: 0 h-index: 0机构: Hunter Genet, Newcastle, NSW, Australia Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, AustraliaKirk, Edwin P.论文数: 0 引用数: 0 h-index: 0机构: Sydney Childrens Hosp, Ctr Clin Genet, Sydney, NSW, Australia Prince Wales Hosp, Randwick Genom Lab, NSW Hlth Pathol, Sydney, NSW, Australia Univ New South Wales, Sch Womens & Childrens Hlth, Sydney, NSW, Australia Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, AustraliaLipke, Michelle论文数: 0 引用数: 0 h-index: 0机构: Sydney Childrens Hosp, Ctr Clin Genet, Sydney, NSW, Australia Queensland Childrens Hosp, Brisbane, Qld, Australia Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, AustraliaMowat, David论文数: 0 引用数: 0 h-index: 0机构: Sydney Childrens Hosp, Ctr Clin Genet, Sydney, NSW, Australia Univ New South Wales, Sch Womens & Childrens Hlth, Sydney, NSW, Australia Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, AustraliaPalmer, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Sydney Childrens Hosp, Ctr Clin Genet, Sydney, NSW, Australia Genet Learning Disabil Serv, Newcastle, NSW, Australia Univ New South Wales, Sch Womens & Childrens Hlth, Sydney, NSW, Australia Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, AustraliaRajagopalan, Sulekha论文数: 0 引用数: 0 h-index: 0机构: Liverpool Hosp, Clin Genet Dept, Sydney, NSW, Australia Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, AustraliaRonan, Anne论文数: 0 引用数: 0 h-index: 0机构: Hunter Genet, Newcastle, NSW, Australia Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, AustraliaSachdev, Rani论文数: 0 引用数: 0 h-index: 0机构: Sydney Childrens Hosp, Ctr Clin Genet, Sydney, NSW, Australia Univ New South Wales, Sch Womens & Childrens Hlth, Sydney, NSW, Australia Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, AustraliaStevenson, William论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Northern Blood Res Ctr, Kolling Inst Med Res, Sydney, NSW, Australia Royal North Shore Hosp, Dept Haematol & Transfus Med, Sydney, NSW, Australia Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, AustraliaTurner, Anne论文数: 0 引用数: 0 h-index: 0机构: Sydney Childrens Hosp, Ctr Clin Genet, Sydney, NSW, Australia Univ New South Wales, Sch Womens & Childrens Hlth, Sydney, NSW, Australia Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, AustraliaWilson, Meredith论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Dept Clin Genet, Sydney, NSW, Australia Univ Sydney, Discipline Child & Adolescent Hlth, Sydney, NSW, Australia Univ Sydney, Discipline Genom Med, Sydney, NSW, Australia Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, AustraliaWorgan, Lisa论文数: 0 引用数: 0 h-index: 0机构: Liverpool Hosp, Clin Genet Dept, Sydney, NSW, Australia Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, AustraliaMorel-Kopp, Marie-Christine论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Northern Blood Res Ctr, Kolling Inst Med Res, Sydney, NSW, Australia Royal North Shore Hosp, Dept Haematol & Transfus Med, Sydney, NSW, Australia Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, AustraliaField, Michael论文数: 0 引用数: 0 h-index: 0机构: Genet Learning Disabil Serv, Newcastle, NSW, Australia Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, AustraliaBuckley, Michael F.论文数: 0 引用数: 0 h-index: 0机构: Prince Wales Hosp, Randwick Genom Lab, NSW Hlth Pathol, Sydney, NSW, Australia Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, AustraliaCowley, Mark J.论文数: 0 引用数: 0 h-index: 0机构: Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Sydney, NSW, Australia Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, AustraliaDinger, Marcel E.论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Sydney, NSW, Australia Univ New South Wales, Sch Biotechnol & Biomol Sci, Sydney, NSW, Australia Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, AustraliaRoscioli, Tony论文数: 0 引用数: 0 h-index: 0机构: Sydney Childrens Hosp, Ctr Clin Genet, Sydney, NSW, Australia Prince Wales Hosp, Randwick Genom Lab, NSW Hlth Pathol, Sydney, NSW, Australia UNSW, Neurosci Res Australia NeuRA, Sydney, NSW, Australia UNSW, Prince Wales Clin Sch, Sydney, NSW, Australia Univ New South Wales, St Vincents Clin Sch, Sydney, NSW, Australia
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