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- [21] Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologiesAMERICAN JOURNAL OF HUMAN GENETICS, 2021, 108 (05) : 919 - 928Zhao, Xuefang论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA Broad Inst Harvard & Massachusetts Inst Technol, Program Med & Populat Genet, Cambridge, MA 02142 USA Broad Inst Harvard & Massachusetts Inst Technol, Stanley Ctr Psychiat Disorders, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA Harvard Med Sch, Boston, MA 02114 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USACollins, Ryan L.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA Broad Inst Harvard & Massachusetts Inst Technol, Program Med & Populat Genet, Cambridge, MA 02142 USA Broad Inst Harvard & Massachusetts Inst Technol, Stanley Ctr Psychiat Disorders, Cambridge, MA 02142 USA Harvard Med Sch, Div Med Sci, Boston, MA 02115 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USALee, Wan-Ping论文数: 0 引用数: 0 h-index: 0机构: Jackson Lab Genom Med, Farmington, CT 06032 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USAWeber, Alexandra M.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Computat Med & Bioinformat, Med Sch, 100 Washtenaw Ave, Ann Arbor, MI 48109 USA Univ Michigan, Dept Human Genet, Med Sch, 1241 East Catherine St, Ann Arbor, MI 48109 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USAJun, Yukyung论文数: 0 引用数: 0 h-index: 0机构: Jackson Lab Genom Med, Farmington, CT 06032 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USAZhu, Qihui论文数: 0 引用数: 0 h-index: 0机构: Jackson Lab Genom Med, Farmington, CT 06032 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USAWeisburd, Ben论文数: 0 引用数: 0 h-index: 0机构: Broad Inst Harvard & Massachusetts Inst Technol, Program Med & Populat Genet, Cambridge, MA 02142 USA Broad Inst Harvard & Massachusetts Inst Technol, Stanley Ctr Psychiat Disorders, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USAHuang, Yongqing论文数: 0 引用数: 0 h-index: 0机构: Broad Inst Harvard & Massachusetts Inst Technol, Data Sci Platform, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USAAudano, Peter A.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Genome Sci, Sch Med, Seattle, WA 98195 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USAWang, Harold论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA Broad Inst Harvard & Massachusetts Inst Technol, Program Med & Populat Genet, Cambridge, MA 02142 USA Broad Inst Harvard & Massachusetts Inst Technol, Stanley Ctr Psychiat Disorders, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USAWalker, Mark论文数: 0 引用数: 0 h-index: 0机构: Broad Inst Harvard & Massachusetts Inst Technol, Program Med & Populat Genet, Cambridge, MA 02142 USA Broad Inst Harvard & Massachusetts Inst Technol, Stanley Ctr Psychiat Disorders, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA Harvard Med Sch, Boston, MA 02114 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USALowther, Chelsea论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA Broad Inst Harvard & Massachusetts Inst Technol, Program Med & Populat Genet, Cambridge, MA 02142 USA Broad Inst Harvard & Massachusetts Inst Technol, Stanley Ctr Psychiat Disorders, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA Harvard Med Sch, Boston, MA 02114 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USAFu, Jack论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA Broad Inst Harvard & Massachusetts Inst Technol, Program Med & Populat Genet, Cambridge, MA 02142 USA Broad Inst Harvard & Massachusetts Inst Technol, Stanley Ctr Psychiat Disorders, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA Harvard Med Sch, Boston, MA 02114 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USAConsortium, Human Genome Structural Variation论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USAGerstein, Mark B.论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Computat Biol & Bioinformat Program, Med Sch, New Haven, CT 06520 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USADevine, Scott E.论文数: 0 引用数: 0 h-index: 0机构: Univ Maryland, Inst Genome Sci, Sch Med, Baltimore, MD 21201 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA论文数: 引用数: h-index:机构:Korbel, Jan O.论文数: 0 引用数: 0 h-index: 0机构: European Mol Biol Lab, Genome Biol Unit, D-69117 Heidelberg, Germany European Bioinformat Inst, European Mol Biol Lab, Wellcome Genome Campus, Cambridge CB10 1SD, England Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USAEichler, Evan E.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Genome Sci, Sch Med, Seattle, WA 98195 USA Univ Washington, Howard Hughes Med Inst, Seattle, WA 98195 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USAChaisson, Mark J. P.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Genome Sci, Sch Med, Seattle, WA 98195 USA Univ Southern Calif, Dept Quantitat & Computat Biol, Los Angeles, CA 90089 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA论文数: 引用数: h-index:机构:Mills, Ryan E.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Computat Med & Bioinformat, Med Sch, 100 Washtenaw Ave, Ann Arbor, MI 48109 USA Univ Michigan, Dept Human Genet, Med Sch, 1241 East Catherine St, Ann Arbor, MI 48109 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USABrand, Harrison论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA Broad Inst Harvard & Massachusetts Inst Technol, Program Med & Populat Genet, Cambridge, MA 02142 USA Broad Inst Harvard & Massachusetts Inst Technol, Stanley Ctr Psychiat Disorders, Cambridge, MA 02142 USA Harvard Med Sch, Div Med Sci, Boston, MA 02115 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USATalkowski, Michael E.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA Broad Inst Harvard & Massachusetts Inst Technol, Program Med & Populat Genet, Cambridge, MA 02142 USA Broad Inst Harvard & Massachusetts Inst Technol, Stanley Ctr Psychiat Disorders, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA Harvard Med Sch, Boston, MA 02114 USA Harvard Med Sch, Div Med Sci, Boston, MA 02115 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA
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- [24] Long-read genome sequencing informs the molecular etiology of imprinting disordersGENETICS IN MEDICINE, 2022, 24 (03) : S214 - S215Dixon, Katherine论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaShen, Yaoqing论文数: 0 引用数: 0 h-index: 0机构: BC Canc, Canadas Michael Smith Genome Sci Ctr, Vancouver, BC, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaChin, Hui-Lin论文数: 0 引用数: 0 h-index: 0机构: Khoo Teck Puat Natl Univ Childrens Med Inst, Natl Univ Hosp, Singapore, Singapore Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaGazzaz, Nour论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz Univ, Dept Pediat, Jeddah, Saudi Arabia Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaHuynh, Stephanie论文数: 0 引用数: 0 h-index: 0机构: Womens Hosp British Columbia, Prov Med Genet Program, Vancouver, BC, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaChan, Simon论文数: 0 引用数: 0 h-index: 0机构: BC Canc, Canadas Michael Smith Genome Sci Ctr, Vancouver, BC, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaZhang, Cathy论文数: 0 引用数: 0 h-index: 0机构: BC Canc, Canadas Michael Smith Genome Sci Ctr, Vancouver, BC, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaCulibrk, Luka论文数: 0 引用数: 0 h-index: 0机构: BC Canc, Canadas Michael Smith Genome Sci Ctr, Vancouver, BC, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaO'Neill, Kieran论文数: 0 引用数: 0 h-index: 0机构: BC Canc, Canadas Michael Smith Genome Sci Ctr, Vancouver, BC, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaMungall, Karen论文数: 0 引用数: 0 h-index: 0机构: BC Canc, Canadas Michael Smith Genome Sci Ctr, Vancouver, BC, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaMungall, Andrew论文数: 0 引用数: 0 h-index: 0机构: BC Canc, Canadas Michael Smith Genome Sci Ctr, Vancouver, BC, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaMoore, Richard论文数: 0 引用数: 0 h-index: 0机构: BC Canc, Canadas Michael Smith Genome Sci Ctr, Vancouver, BC, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaGibson, William论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaChanoine, Jean-Pierre论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Pediat, Vancouver, BC, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaBoerkoel, Cornelius论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaJones, Steven论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada
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