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- [21] Comparison of structural variants detected by optical mapping with long-read next-generation sequencingBIOINFORMATICS, 2021, 37 (20) : 3398 - 3404Savara, Jakub论文数: 0 引用数: 0 h-index: 0机构: VSB Tech Univ Ostrava, Dept Comp Sci, Ostrava 70800, Czech Republic Palacky Univ Olomouc, Fac Med & Dent, Dept Immunol, Olomouc 77900, Czech Republic Univ Hosp Olomouc, Olomouc 77900, Czech Republic VSB Tech Univ Ostrava, Dept Comp Sci, Ostrava 70800, Czech RepublicNovosad, Tomas论文数: 0 引用数: 0 h-index: 0机构: VSB Tech Univ Ostrava, Dept Comp Sci, Ostrava 70800, Czech Republic VSB Tech Univ Ostrava, Dept Comp Sci, Ostrava 70800, Czech RepublicGajdos, Petr论文数: 0 引用数: 0 h-index: 0机构: VSB Tech Univ Ostrava, Dept Comp Sci, Ostrava 70800, Czech Republic VSB Tech Univ Ostrava, Dept Comp Sci, Ostrava 70800, Czech RepublicKriegova, Eva论文数: 0 引用数: 0 h-index: 0机构: Palacky Univ Olomouc, Fac Med & Dent, Dept Immunol, Olomouc 77900, Czech Republic Univ Hosp Olomouc, Olomouc 77900, Czech Republic VSB Tech Univ Ostrava, Dept Comp Sci, Ostrava 70800, Czech Republic
- [22] Peering into the gaps: Long-read sequencing illuminates structural variants and genomic evolution in the Australasian snapperGENOMICS, 2024, 116 (05)Blommaert, Julie论文数: 0 引用数: 0 h-index: 0机构: New Zealand Inst Plant & Food Res Ltd, Nelson, New Zealand New Zealand Inst Plant & Food Res Ltd, Nelson, New ZealandSandoval-Castillo, Jonathan论文数: 0 引用数: 0 h-index: 0机构: Flinders Univ S Australia, Coll Sci & Engn, Mol Ecol Lab, Bedford Pk, SA, Australia New Zealand Inst Plant & Food Res Ltd, Nelson, New ZealandBeheregaray, Luciano B.论文数: 0 引用数: 0 h-index: 0机构: Flinders Univ S Australia, Coll Sci & Engn, Mol Ecol Lab, Bedford Pk, SA, Australia New Zealand Inst Plant & Food Res Ltd, Nelson, New ZealandWellenreuther, Maren论文数: 0 引用数: 0 h-index: 0机构: New Zealand Inst Plant & Food Res Ltd, Nelson, New Zealand Univ Auckland, Sch Biol Sci, Auckland, New Zealand New Zealand Inst Plant & Food Res Ltd, Nelson, New Zealand
- [23] Long-read sequencing to unravel complex structural variants of CEP78 leading to Cone Rod Dystrophy and Hearing LossINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2021, 62 (08)论文数: 引用数: h-index:机构:Rendtorff, Nanna D.论文数: 0 引用数: 0 h-index: 0机构: Copenhagen Univ Hosp, Dept Clin Genet, Kennedy Ctr, Copenhagen, Denmark Ghent Univ Hosp, Ctr Med Genet Ghent, Ghent, BelgiumDe Bruyne, Marieke论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ctr Med Genet Ghent, Ghent, Belgium Univ Ghent, Dept Biomol Med, Ghent, Belgium Ghent Univ Hosp, Ctr Med Genet Ghent, Ghent, BelgiumDe Zaeytijd, Julie论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Dept Ophthalmol, Ghent, Belgium Ghent Univ Hosp, Ctr Med Genet Ghent, Ghent, BelgiumVan Lint, Michel论文数: 0 引用数: 0 h-index: 0机构: Antwerp Univ Hosp, Dept Ophthalmol, Antwerp, Belgium Ghent Univ Hosp, Ctr Med Genet Ghent, Ghent, BelgiumVan Heetvelde, Mattias论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ctr Med Genet Ghent, Ghent, Belgium Univ Ghent, Dept Biomol Med, Ghent, Belgium Ghent Univ Hosp, Ctr Med Genet Ghent, Ghent, BelgiumRey, Alfredo Duenas论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ctr Med Genet Ghent, Ghent, Belgium Univ Ghent, Dept Biomol Med, Ghent, Belgium Ghent Univ Hosp, Ctr Med Genet Ghent, Ghent, Belgium论文数: 引用数: h-index:机构:Jacob, Julie论文数: 0 引用数: 0 h-index: 0机构: Leuven Univ Hosp, Dept Ophthalmol, Leuven, Belgium Ghent Univ Hosp, Ctr Med Genet Ghent, Ghent, Belgium论文数: 引用数: h-index:机构:Van Dorpe, Jo论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Dept Pathol, Ghent, Belgium Univ Ghent, Dept Diagnost Sci, Ghent, Belgium Ghent Univ Hosp, Ctr Med Genet Ghent, Ghent, BelgiumMenten, Bjorn论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ctr Med Genet Ghent, Ghent, Belgium Univ Ghent, Dept Biomol Med, Ghent, Belgium Ghent Univ Hosp, Ctr Med Genet Ghent, Ghent, BelgiumStrazisar, Mojca论文数: 0 引用数: 0 h-index: 0机构: VIB, VIB Ctr Mol Neurol, Neur Support Facil, Ghent, Belgium Univ Antwerp, Dept Biomed Sci, Neurom Support Facil, Antwerp, Belgium Ghent Univ Hosp, Ctr Med Genet Ghent, Ghent, BelgiumBertelsen, Mette论文数: 0 引用数: 0 h-index: 0机构: Copenhagen Univ Hosp, Dept Clin Genet, Kennedy Ctr, Copenhagen, Denmark Univ Copenhagen, Rigshosp Glostrup, Dept Ophthalmol, Glostrup, Denmark Ghent Univ Hosp, Ctr Med Genet Ghent, Ghent, BelgiumTranebjrg, Lisbeth论文数: 0 引用数: 0 h-index: 0机构: Copenhagen Univ Hosp, Dept Clin Genet, Kennedy Ctr, Copenhagen, Denmark Univ Copenhagen, Inst Clin Med, Copenhagen, Denmark Ghent Univ Hosp, Ctr Med Genet Ghent, Ghent, Belgium论文数: 引用数: h-index:机构:
- [24] Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assemblyAMERICAN JOURNAL OF HUMAN GENETICS, 2024, 111 (12)Mostovoy, Yulia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 MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02115 USA Harvard Med Sch, Boston, MA 02115 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USABoone, Philip M.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 MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 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 MIT & Harvard, Data Sci Platform, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USAV. Garimella, Kiran论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Data Sci Platform, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USATan, Kar-Tong论文数: 0 引用数: 0 h-index: 0机构: Dana Farber Canc Inst, Dept Med Oncol, Boston, MA 02215 USA Broad Inst MIT & Harvard, Canc Program, Cambridge, MA 02142 USA Harvard Med Sch, Dept Genet, Boston, MA 02115 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USARussell, Bianca E.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Dept Pediat, Div Rheumatol, Los Angeles, CA 90095 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USASalani, Monica论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USAEsch, Celine E. F. de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 MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02115 USA Harvard Med Sch, Boston, MA 02115 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USALemanski, John论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USACurall, Benjamin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 MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02115 USA Harvard Med Sch, Boston, MA 02115 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USAHauenstein, Jen论文数: 0 引用数: 0 h-index: 0机构: BioNano Genom Inc, San Diego, CA 92121 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USALucente, Diane论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USABowers, Tera论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Genom Platform, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USADesmet, Tim论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Genom Platform, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USAGabriel, Stacey论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Genom Platform, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USAMorton, Cynthia C.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Harvard Med Sch, Brigham & Womens Hosp, Dept Obstet & Gynecol, Boston, MA 02115 USA Harvard Med Sch, Brigham & Womens Hosp, Dept Pathol, BOSTON, MA 02115 USA Univ Manchester, Manchester Ctr Audiol & Deafness, Sch Hlth Sci, Manchester M13 9PL, England Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USAMeyerson, Matthew论文数: 0 引用数: 0 h-index: 0机构: Dana Farber Canc Inst, Dept Med Oncol, Boston, MA 02215 USA Broad Inst MIT & Harvard, Canc Program, Cambridge, MA 02142 USA Harvard Med Sch, Dept Genet, Boston, MA 02115 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USAHastie, Alex R.论文数: 0 引用数: 0 h-index: 0机构: BioNano Genom Inc, San Diego, CA 92121 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USAGusella, James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 MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02115 USA Harvard Med Sch, Boston, MA 02115 USA Harvard Med Sch, Dept Genet, Boston, MA 02115 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USAQuintero-Rivera, Fabiola论文数: 0 引用数: 0 h-index: 0机构: MASSACHUSETTS GEN HOSP, DIV PEDIAT SURG, PEDIAT SURG RES LAB, BOSTON, MA 02114 USA Univ Calif Irvine, Dept Lab Med, Div Genet & Genom Med, Irvine, CA 92697 USA Univ Calif Irvine, Dept Pediat, Div Genet & Genom Med, Irvine, CA 92697 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 MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02115 USA Harvard Med Sch, Boston, MA 02115 USA Dept Pediat Boston, Pediat Surg Res Lab, Boston, MA 02114 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 MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02115 USA Harvard Med Sch, Boston, MA 02115 USA Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA
- [25] Correction: In it for the long run: perspectives on exploiting long-read sequencing in livestock for population scale studies of structural variantsGenetics Selection Evolution, 55Tuan V. Nguyen论文数: 0 引用数: 0 h-index: 0机构: Agriculture Victoria,School of Applied Systems BiologyChristy J. Vander Jagt论文数: 0 引用数: 0 h-index: 0机构: Agriculture Victoria,School of Applied Systems BiologyJianghui Wang论文数: 0 引用数: 0 h-index: 0机构: Agriculture Victoria,School of Applied Systems BiologyHans D. Daetwyler论文数: 0 引用数: 0 h-index: 0机构: Agriculture Victoria,School of Applied Systems BiologyRuidong Xiang论文数: 0 引用数: 0 h-index: 0机构: Agriculture Victoria,School of Applied Systems BiologyMichael E. Goddard论文数: 0 引用数: 0 h-index: 0机构: Agriculture Victoria,School of Applied Systems BiologyLoan T. Nguyen论文数: 0 引用数: 0 h-index: 0机构: Agriculture Victoria,School of Applied Systems BiologyElizabeth M. Ross论文数: 0 引用数: 0 h-index: 0机构: Agriculture Victoria,School of Applied Systems BiologyBen J. Hayes论文数: 0 引用数: 0 h-index: 0机构: Agriculture Victoria,School of Applied Systems BiologyAmanda J. Chamberlain论文数: 0 引用数: 0 h-index: 0机构: Agriculture Victoria,School of Applied Systems BiologyIona M. MacLeod论文数: 0 引用数: 0 h-index: 0机构: Agriculture Victoria,School of Applied Systems Biology
- [26] Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin DeficiencyTHROMBOSIS AND HAEMOSTASIS, 2022, 122 (08) : 1369 - 1378De La Morena-Barrio, Belen论文数: 0 引用数: 0 h-index: 0机构: Univ Murcia, Hosp Univ Morales Meseguer,Serv Hematol & Oncol M, Ctr Reg Hemodonac,Inst Murciano Invest Biosanitar, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Murcia, Spain Univ Murcia, Hosp Univ Morales Meseguer,Serv Hematol & Oncol M, Ctr Reg Hemodonac,Inst Murciano Invest Biosanitar, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Murcia, Spain论文数: 引用数: h-index:机构:Eugenia De La Morena-Barrio, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Murcia, Hosp Univ Morales Meseguer,Serv Hematol & Oncol M, Ctr Reg Hemodonac,Inst Murciano Invest Biosanitar, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Murcia, Spain Univ Murcia, Hosp Univ Morales Meseguer,Serv Hematol & Oncol M, Ctr Reg Hemodonac,Inst Murciano Invest Biosanitar, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Murcia, SpainStefanucci, Luca论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, England Natl Hlth Serv Blood & Transplant NHSBT, Cambridge Biomed Campus, Cambridge, England Addenbrookes Hosp, BHF Ctr Excellence, Div Cardiovasc Med, Cambridge Biomed Campus, Cambridge, England Univ Murcia, Hosp Univ Morales Meseguer,Serv Hematol & Oncol M, Ctr Reg Hemodonac,Inst Murciano Invest Biosanitar, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Murcia, SpainPadilla, Jose论文数: 0 引用数: 0 h-index: 0机构: Univ Murcia, Hosp Univ Morales Meseguer,Serv Hematol & Oncol M, Ctr Reg Hemodonac,Inst Murciano Invest Biosanitar, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Murcia, Spain Univ Murcia, Hosp Univ Morales Meseguer,Serv Hematol & Oncol M, Ctr Reg Hemodonac,Inst Murciano Invest Biosanitar, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Murcia, SpainMinano, Antonia论文数: 0 引用数: 0 h-index: 0机构: Univ Murcia, Hosp Univ Morales Meseguer,Serv Hematol & Oncol M, Ctr Reg Hemodonac,Inst Murciano Invest Biosanitar, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Murcia, Spain Univ Murcia, Hosp Univ Morales Meseguer,Serv Hematol & Oncol M, Ctr Reg Hemodonac,Inst Murciano Invest Biosanitar, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Murcia, SpainGleadall, Nicholas论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, England Cambridge Univ Hosp NHS Fdn Trust, NIHR BioResource, Cambridge Biomed Campus, Cambridge, England Univ Murcia, Hosp Univ Morales Meseguer,Serv Hematol & Oncol M, Ctr Reg Hemodonac,Inst Murciano Invest Biosanitar, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Murcia, SpainLuis Garcia, Juan论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Salamanca, Serv Hematol, Salamanca, Spain Univ Murcia, Hosp Univ Morales Meseguer,Serv Hematol & Oncol M, Ctr Reg Hemodonac,Inst Murciano Invest Biosanitar, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Murcia, SpainFernanda Lopez-Fernandez, Maria论文数: 0 引用数: 0 h-index: 0机构: Complexo Hosp Univ A Coruna, Serv Hematol, La Coruna, Spain Univ Murcia, Hosp Univ Morales Meseguer,Serv Hematol & Oncol M, Ctr Reg Hemodonac,Inst Murciano Invest Biosanitar, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Murcia, SpainMorange, Pierre-Emmanuel论文数: 0 引用数: 0 h-index: 0机构: La Timone Hosp, Lab Haematol, Marseille, France Aix Marseille Univ, INSERM, INRAE, C2VN, Marseille, France Univ Murcia, Hosp Univ Morales Meseguer,Serv Hematol & Oncol M, Ctr Reg Hemodonac,Inst Murciano Invest Biosanitar, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Murcia, SpainPuurunen, Marja论文数: 0 引用数: 0 h-index: 0机构: NHLBI, Framingham Heart Study, Framingham, MA USA Univ Murcia, Hosp Univ Morales Meseguer,Serv Hematol & Oncol M, Ctr Reg Hemodonac,Inst Murciano Invest Biosanitar, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Murcia, Spain论文数: 引用数: h-index:机构:Vidal, Francisco论文数: 0 引用数: 0 h-index: 0机构: Banc de Sang & Teixits, Barcelona, Spain Univ Autonoma Barcelona VHIR UAB, Vall dHebron Res Inst, Barcelona, Spain CIBER Enfermedades Cardiovasc, Madrid, Spain Univ Murcia, Hosp Univ Morales Meseguer,Serv Hematol & Oncol M, Ctr Reg Hemodonac,Inst Murciano Invest Biosanitar, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Murcia, SpainRaymond, Frances Lucy论文数: 0 引用数: 0 h-index: 0机构: Cambridge Univ Hosp NHS Fdn Trust, NIHR BioResource, Cambridge Biomed Campus, Cambridge, England Univ Cambridge, Dept Med Genet, Cambridge Biomed Campus, Cambridge, England Univ Murcia, Hosp Univ Morales Meseguer,Serv Hematol & Oncol M, Ctr Reg Hemodonac,Inst Murciano Invest Biosanitar, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Murcia, SpainVicente, Vicente论文数: 0 引用数: 0 h-index: 0机构: Univ Murcia, Hosp Univ Morales Meseguer,Serv Hematol & Oncol M, Ctr Reg Hemodonac,Inst Murciano Invest Biosanitar, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Murcia, Spain Univ Murcia, Hosp Univ Morales Meseguer,Serv Hematol & Oncol M, Ctr Reg Hemodonac,Inst Murciano Invest Biosanitar, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Murcia, SpainOuwehand, Willem H.论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, England Cambridge Univ Hosp NHS Fdn Trust, NIHR BioResource, Cambridge Biomed Campus, Cambridge, England Univ Murcia, Hosp Univ Morales Meseguer,Serv Hematol & Oncol M, Ctr Reg Hemodonac,Inst Murciano Invest Biosanitar, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Murcia, SpainCorral, Javier论文数: 0 引用数: 0 h-index: 0机构: Univ Murcia, Hosp Univ Morales Meseguer,Serv Hematol & Oncol M, Ctr Reg Hemodonac,Inst Murciano Invest Biosanitar, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Murcia, Spain Univ Murcia, Hosp Univ Morales Meseguer,Serv Hematol & Oncol M, Ctr Reg Hemodonac,Inst Murciano Invest Biosanitar, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Murcia, SpainSanchis-Juan, Alba论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, England Cambridge Univ Hosp NHS Fdn Trust, NIHR BioResource, Cambridge Biomed Campus, Cambridge, England Univ Murcia, Hosp Univ Morales Meseguer,Serv Hematol & Oncol M, Ctr Reg Hemodonac,Inst Murciano Invest Biosanitar, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Murcia, Spain
- [27] SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencingGENOME MEDICINE, 2022, 14 (01)Danis, Daniel论文数: 0 引用数: 0 h-index: 0机构: Jackson Lab Genom Med, Farmington, CT 06032 USA Jackson Lab Genom Med, Farmington, CT 06032 USAJacobsen, Julius O. B.论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, Barts & London Sch Med & Dent, William Harvey Res Inst, Charterhouse Sq, London EC1M 6BQ, England Jackson Lab Genom Med, Farmington, CT 06032 USABalachandran, Parithi论文数: 0 引用数: 0 h-index: 0机构: Jackson Lab Genom Med, Farmington, CT 06032 USA Jackson Lab Genom Med, Farmington, CT 06032 USAZhu, Qihui论文数: 0 引用数: 0 h-index: 0机构: Jackson Lab Genom Med, Farmington, CT 06032 USA Jackson Lab Genom Med, Farmington, CT 06032 USAYilmaz, Feyza论文数: 0 引用数: 0 h-index: 0机构: Jackson Lab Genom Med, Farmington, CT 06032 USA Jackson Lab Genom Med, Farmington, CT 06032 USAReese, Justin论文数: 0 引用数: 0 h-index: 0机构: Lawrence Berkeley Natl Lab, Div Environm Genom & Syst Biol, Berkeley, CA 94720 USA Jackson Lab Genom Med, Farmington, CT 06032 USA论文数: 引用数: h-index:机构:Lyon, Gholson J.论文数: 0 引用数: 0 h-index: 0机构: New York State Inst Basic Res Dev Disabil, Dept Human Genet, 1050 Forest Hill Rd, Staten Isl, NY 10314 USA CUNY, Grad Ctr, Biol PhD Program, New York, NY USA Jackson Lab Genom Med, Farmington, CT 06032 USAHelbig, Ingo论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Epilepsy NeuroGenet Initiat ENGIN, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Biomed & Hlth Informat DBHi, Philadelphia, PA 19104 USA Univ Penn, Dept Neurol, Philadelphia, PA 19104 USA Jackson Lab Genom Med, Farmington, CT 06032 USAMungall, Christopher J.论文数: 0 引用数: 0 h-index: 0机构: Lawrence Berkeley Natl Lab, Div Environm Genom & Syst Biol, Berkeley, CA 94720 USA Jackson Lab Genom Med, Farmington, CT 06032 USABeck, Christine R.论文数: 0 引用数: 0 h-index: 0机构: Jackson Lab Genom Med, Farmington, CT 06032 USA Univ Connecticut, Dept Genet & Genome Sci, Ctr Hlth, Farmington, CT 06032 USA Univ Connecticut, Inst Syst Genom, Storrs, CT 06269 USA Jackson Lab Genom Med, Farmington, CT 06032 USALee, Charles论文数: 0 引用数: 0 h-index: 0机构: Jackson Lab Genom Med, Farmington, CT 06032 USA Jackson Lab Genom Med, Farmington, CT 06032 USASmedley, Damian论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, Barts & London Sch Med & Dent, William Harvey Res Inst, Charterhouse Sq, London EC1M 6BQ, England Jackson Lab Genom Med, Farmington, CT 06032 USARobinson, Peter N.论文数: 0 引用数: 0 h-index: 0机构: Jackson Lab Genom Med, Farmington, CT 06032 USA Univ Connecticut, Dept Genet & Genome Sci, Ctr Hlth, Farmington, CT 06032 USA Jackson Lab Genom Med, Farmington, CT 06032 USA
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