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Author Correction: Massively parallel interrogation of protein fragment secretability using SECRiFY reveals features influencing secretory system transit

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Nature communications 2023年第1期14卷 1072页

作者： Morgane Boone Pathmanaban Ramasamy Jasper Zuallaert Robbin Bouwmeester Berre Van Moer Davy Maddelein Demet Turan Niels Hulstaert Hannah Eeckhaut Elien Vandermarliere Lennart Martens Sven Degroeve Wesley De Neve Wim Vranken Nico Callewaert Center for Medical Biotechnology VIB Zwijnaarde Belgium. morganeboone@***. Department of Biochemistry and Microbiology Faculty of Sciences Ghent University Ghent Belgium. morganeboone@***. Department of Biochemistry and Biophysics UCSF San Francisco CA USA. morganeboone@***. Center for Medical Biotechnology VIB Zwijnaarde Belgium. Department of Biomolecular Medicine Faculty of Medicine and Health Sciences Ghent University Ghent Belgium. Structural Biology Brussels VUB Brussels Belgium. Structural Biology Research Center VIB Brussels Belgium. Interuniversity Institute of Bioinformatics in Brussels (IB)2 ULB-VUB Brussels Belgium. Department of Biochemistry and Microbiology Faculty of Sciences Ghent University Ghent Belgium. Center for Biotech Data Science Ghent University Global Campus Songdo Incheon South Korea. IDLab ELIS UGent Ghent Belgium. Center for Medical Biotechnology VIB Zwijnaarde Belgium. nico.callewaert@vib-ugent.be. Department of Biochemistry and Microbiology Faculty of Sciences Ghent University Ghent Belgium. nico.callewaert@vib-ugent.be.

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Transcript expression-aware annotation improves rare variant interpretation (vol 581, pg 452, 2020)

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NATURE 2021年第7846期590卷 E54-E54页

作者： Cummings, Beryl B. Karczewski, Konrad J. Kosmicki, Jack A. Seaby, Eleanor G. Watts, Nicholas A. Singer-Berk, Moriel Mudge, Jonathan M. Karjalainen, Juha Satterstrom, F. Kyle O'Donnell-Luria, Anne H. Poterba, Timothy Seed, Cotton Solomonson, Matthew Alfoldi, Jessica Daly, Mark J. MacArthur, Daniel G. Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Analytical and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Program in Biological and Biomedical Sciences Harvard Medical School Boston MA USA Program in Bioinformatics and Integrative Genomics Harvard Medical School Boston MA USA Genomic Informatics Group University Hospital Southampton Southampton UK Stanley Center for Psychiatric Research Broad Institute of MIT and Harvard Cambridge MA USA Division of Genetics and Genomics Boston Children’s Hospital Boston MA USA Department of Pediatrics Harvard Medical School Boston MA USA European Molecular Biology Laboratory European Bioinformatics Institute Wellcome Genome Campus Hinxton Cambridge UK Center for Genomic Medicine Massachusetts General Hospital Boston MA USA Broad Genomics Broad Institute of MIT and Harvard Cambridge MA USA National Heart & Lung Institute and MRC London Institute of Medical Sciences Imperial College London London UK Cardiovascular Research Centre Royal Brompton & Harefield Hospitals NHS Trust London UK Cardiac Arrhythmia Service and Cardiovascular Research Center Massachusetts General Hospital Boston MA USA Estonian Genome Center Institute of Genomics University of Tartu Tartu Estonia Department of Medicine Harvard Medical School Boston MA USA Cardiac Arrhythmia Service Massachusetts General Hospital Boston MA USA Division of General Internal Medicine Massachusetts General Hospital Boston MA USA Institute for Molecular Medicine FIMM University of Helsinki Helsinki Finland Department of Public Health Faculty of Medicine University of Helsinki Helsinki Finland Department of Genetics Harvard Medical School Boston MA USA Data Sciences Platform Broad Institute of MIT and Harvard Cambridge MA USA Genomics Platform Broad Institute of MIT and Harvard Cambridge MA USA Wellcome Sanger Institute Hinxton Cambridgeshire UK Unidad de Investigaci

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The FAIR Guiding Principles for scientific data management and stewardship

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Scientific data 2016年第1期3卷 160018页

作者： Mark D Wilkinson Michel Dumontier I Jsbrand Jan Aalbersberg Gabrielle Appleton Myles Axton Arie Baak Niklas Blomberg Jan-Willem Boiten Luiz Bonino da Silva Santos Philip E Bourne Jildau Bouwman Anthony J Brookes Tim Clark Mercè Crosas Ingrid Dillo Olivier Dumon Scott Edmunds Chris T Evelo Richard Finkers Alejandra Gonzalez-Beltran Alasdair J G Gray Paul Groth Carole Goble Jeffrey S Grethe Jaap Heringa Peter A C 't Hoen Rob Hooft Tobias Kuhn Ruben Kok Joost Kok Scott J Lusher Maryann E Martone Albert Mons Abel L Packer Bengt Persson Philippe Rocca-Serra Marco Roos Rene van Schaik Susanna-Assunta Sansone Erik Schultes Thierry Sengstag Ted Slater George Strawn Morris A Swertz Mark Thompson Johan van der Lei Erik van Mulligen Jan Velterop Andra Waagmeester Peter Wittenburg Katherine Wolstencroft Jun Zhao Barend Mons Center for Plant Biotechnology and Genomics Universidad Politécnica de Madrid Madrid 28223 Spain. Stanford University Stanford 94305-5411 USA. Nature Genetics New York 10004-1562 USA. Euretos and Phortos Consultants Rotterdam 2741 CA The Netherlands. ELIXIR Wellcome Genome Campus Hinxton CB10 1SA UK. Lygature Eindhoven 5656 AG The Netherlands. Vrije Universiteit Amsterdam Dutch Techcenter for Life Sciences Amsterdam 1081 HV The Netherlands. Office of the Director National Institutes of Health Rockville 20892 USA. TNO Zeist 3700 AJ The Netherlands. Department of Genetics University of Leicester Leicester LE1 7RH UK. Harvard Medical School Boston Massachusetts MA 02115 USA. Harvard University Cambridge Massachusetts MA 02138 USA. Data Archiving and Networked Services (DANS) The Hague 2593 HW The Netherlands. GigaScience Beijing Genomics Institute Shenzhen 518083 China. Department of Bioinformatics Maastricht University Maastricht 6200 MD The Netherlands. Wageningen UR Plant Breeding Wageningen 6708 PB The Netherlands. Oxford e-Research Center University of Oxford Oxford OX1 3QG UK. Heriot-Watt University Edinburgh EH14 4AS UK. School of Computer Science University of Manchester Manchester M13 9PL UK. Center for Research in Biological Systems School of Medicine University of California San Diego La Jolla California 92093-0446 USA. Dutch Techcenter for the Life Sciences Utrecht 3501 DE The Netherlands. Department of Human Genetics Leiden University Medical Center Dutch Techcenter for the Life Sciences Leiden 2300 RC The Netherlands. Dutch TechCenter for Life Sciences and ELIXIR-NL Utrecht 3501 DE The Netherlands. VU University Amsterdam Amsterdam 1081 HV The Netherlands. Leiden Center of Data Science Leiden University Leiden 2300 RA The Netherlands. Netherlands eScience Center Amsterdam 1098 XG The Netherlands. National Center for Microscopy and Imaging Research UCSD San Diego 92103 USA. Phortos Consultants San Diego 92011 USA. SciELO/FAPESP Pr

There is an urgent need to improve the infrastructure supporting the reuse of scholarly data. A diverse set of stakeholders-representing academia, industry, funding agencies, and scholarly publishers-have come together to design and jointly endorse a concise and measureable set of principles that we refer to as the FAIR data Principles. The intent is that these may act as a guideline for those wishing to enhance the reusability of their data holdings. Distinct from peer initiatives that focus on the human scholar, the FAIR Principles put specific emphasis on enhancing the ability of machines to automatically find and use the data, in addition to supporting its reuse by individuals. This Comment is the first formal publication of the FAIR Principles, and includes the rationale behind them, and some exemplar implementations in the community.

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Correction to: Big data ordination towards intensive care event count cases using fast computing GLLVMS

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BMC medical research methodology 2022年第1期22卷 114页

作者： Rezzy Eko Caraka Rung-Ching Chen Su-Wen Huang Shyue-Yow Chiou Prana Ugiana Gio Bens Pardamean Executive Secretariat National Research and Innovation Agency (BRIN) DKI Jakarta 10340 Indonesia. Department of Information Management College of Informatics Chaoyang University of Technology Taichung City 41349 Taiwan. Department of Information Management College of Informatics Chaoyang University of Technology Taichung City 41349 Taiwan. crching@cyut.edu.tw. Department of Information Management College of Informatics Chaoyang University of Technology Taichung City 41349 Taiwan. dale33663366@vghtc.gov.tw. Taichung Veterans General Hospital Taichung City 40705 Taiwan. dale33663366@vghtc.gov.tw. Taichung Veterans General Hospital Taichung City 40705 Taiwan. Department of Mathematics Universitas Sumatera Utara Medan 20155 Indonesia. Bioinformatics and Data Science Research Center Bina Nusantara University DKI Jakarta 11480 Indonesia. Computer Science Department Bina Nusantara University DKI Jakarta 11480 Indonesia.

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Quantum computing at the frontiers of biological sciences

arXiv

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arXiv 2019年

作者： Emani, Prashant S. Warrell, Jonathan Anticevic, Alan Bekiranov, Stefan Gandal, Michael McConnell, Michael J. Sapiro, Guillermo Aspuru-Guzik, Alán Baker, Justin Bastiani, Matteo McClure, Patrick Murray, John Sotiropoulos, Stamatios N. Taylor, Jacob Senthil, Geetha Lehner, Thomas Gerstein, Mark B. Harrow, Aram W. Program in Computational Biology and Bioinformatics Yale University New HavenCT06520 United States Department of Molecular Biophysics and Biochemistry Yale University New HavenCT06520 United States Yale School of Medicine Department of Psychiatry New HavenCT06511 United States University of Virginia School of Medicine Department of Biochemistry and Molecular Genetics CharlottesvilleVA22903 United States Department of Psychiatry Semel Institute David Geffen School of Medicine University of California–Los Angeles 695 Charles E. Young Drive South Los AngelesCA90095 United States Univ. of Virginia School of Medicine Department of Neuroscience CharlottesvilleVA22903 United States Department of Electrical and Computer Engineering Duke University DurhamNC27708 United States Department of Chemistry University of Toronto 80 St. George Street TorontoONM5S 3H6 Canada TorontoONM5S 1M1 Canada CIFAR Artificial Intelligence Research Chair Vector Institute TorontoONM5S 1M1 Canada Department of Computer Science University of Toronto 40 St. George Street TorontoONM5S 2E4 Canada Schizophrenia and Bipolar Disorder Program McLean Hospital BelmontMA02478 United States Department of Psychiatry Harvard Medical School BostonMA02114 United States Sir Peter Mansfield Imaging Centre School of Medicine University of Nottingham NottinghamNG7 2RD United Kingdom Machine Learning Team National Institute of Mental Health BethesdaMD20892 United States Section on Functional Imaging Methods National Institute of Mental Health BethesdaMD20892 United States Department of Psychiatry Yale University School of Medicine New HavenCT06511 United States Department of Physics Yale University New HavenCT06511 United States Joint Center for Quantum Information and Computer Science University of Maryland College ParkMD20742 United States National Institute of Standards and Technology GaithersburgMD20899 United States Office of Genomics Research Coordination N

The search for meaningful structure in biological data has relied on cutting-edge advances in computational technology and data science methods. However, challenges arise as we push the limits of scale and complexity in biological problems. Innovation in massively parallel, classical computing hardware and algorithms continues to address many of these challenges, but there is a need to simultaneously consider new paradigms to circumvent current barriers to processing speed. Accordingly, we articulate a view towards quantum computation and quantum information science, where algorithms have demonstrated potential polynomial and exponential computational speedups in certain applications, such as machine learning. The maturation of the field of quantum computing, in hardware and algorithm development, also coincides with the growth of several collaborative efforts to address questions across length and time scales, and scientific disciplines. We use this coincidence to explore the potential for quantum computing to aid in one such endeavor: the merging of insights from genetics, genomics, neuroimaging and behavioral phenotyping. By examining joint opportunities for computational innovation across fields, we highlight the need for a common language between biological data analysis and quantum computing. Ultimately, we consider current and future prospects for the employment of quantum computing algorithms in the biological sciences. Copyright © 2019, The Authors. All rights reserved.

关键词： Machine learning

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Publisher Correction: Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

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Nature genetics 2023年第5期55卷 893页

作者： Isidro Cortés-Ciriano Jake June-Koo Lee Ruibin Xi Dhawal Jain Youngsook L Jung Lixing Yang Dmitry Gordenin Leszek J Klimczak Cheng-Zhong Zhang David S Pellman Peter J Park Department of Biomedical Informatics Harvard Medical School Boston MA USA. Ludwig Center at Harvard Boston MA USA. Centre for Molecular Science Informatics Department of Chemistry University of Cambridge Cambridge UK. European Molecular Biology Laboratory European Bioinformatics Institute Hinxton UK. School of Mathematical Sciences and Center for Statistical Science Peking University Beijing China. Ben May Department for Cancer Research University of Chicago Chicago IL USA. Department of Human Genetics The University of Chicago Chicago IL USA. Genome Integrity and Structural Biology Laboratory National Institute of Environmental Health Sciences US National Institutes of Health Durham NC USA. Integrative Bioinformatics Group National Institute of Environmental Health Sciences US National Institutes of Health Durham NC USA. Department of Data Sciences Dana-Farber Cancer Institute Boston MA USA. Department of Pediatric Oncology Dana-Farber Cancer Institute Boston MA USA. Department of Cell Biology Harvard Medical School Blavatnik Institute Boston MA USA. Howard Hughes Medical Institute Boston MA USA. Department of Biomedical Informatics Harvard Medical School Boston MA USA. peter_park@hms.harvard.edu. Ludwig Center at Harvard Boston MA USA. peter_park@hms.harvard.edu.

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Africa-specific human genetic variation near CHD1L associates with HIV-1 load (vol 620, pg 1025, 2023)

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NATURE 2023年第7979期621卷 E42-E42页

作者： McLaren, Paul J. Porreca, Immacolata Iaconis, Gennaro Mok, Hoi Ping Mukhopadhyay, Subhankar Karakoc, Emre Cristinelli, Sara Pomilla, Cristina Bartha, Istvan Thorball, Christian W. Tough, Riley H. Angelino, Paolo Kiar, Cher S. Carstensen, Tommy Fatumo, Segun Porter, Tarryn Jarvis, Isobel Skarnes, William C. Bassett, Andrew DeGorter, Marianne K. Moorthy, Mohana Prasad Sathya Tuff, Jeffrey F. Kim, Eun-Young Walter, Miriam Simons, Lacy M. Bashirova, Arman Buchbinder, Susan Carrington, Mary Cossarizza, Andrea De Luca, Andrea Goedert, James J. Goldstein, David B. Haas, David W. Herbeck, Joshua T. Johnson, Eric O. Kaleebu, Pontiano Kilembe, William Kirk, Gregory D. Kootstra, Neeltje A. Kral, Alex H. Lambotte, Olivier Luo, Ma Mallal, Simon Martinez-Picado, Javier Meyer, Laurence Miro, Jose M. Moodley, Pravi Motala, Ayesha A. Mullins, James I. Nam, Kireem Obel, Niels Pirie, Fraser Plummer, Francis A. Poli, Guido Price, Matthew A. Rauch, Andri Theodorou, Ioannis Trkola, Alexandra Walker, Bruce D. Winkler, Cheryl A. Zagury, Jean-Francois Montgomery, Stephen B. Ciuffi, Angela Hultquist, Judd F. Wolinsky, Steven M. Dougan, Gordon Lever, Andrew M. L. Gurdasani, Deepti Groom, Harriet Sandhu, Manjinder S. Fellay, Jacques Sexually Transmitted and Blood-Borne Infections Division at JC Wilt Infectious Diseases Research Centre National Microbiology Laboratory Branch Public Health Agency of Canada Winnipeg Manitoba Canada Department of Medical Microbiology and Infectious Diseases University of Manitoba Winnipeg Manitoba Canada Vaccine and Therapeutics Laboratory Medical and Scientific Affairs National Microbiology Laboratory Branch Public Health Agency of Canada Winnipeg Manitoba Canada Wellcome Trust Sanger Institute Hinxton UK Department of Medicine University of Cambridge Cambridge UK Department of Medicine National University of Singapore Singapore Singapore Peter Gorer Department of Immunobiology School of Immunology and Microbial Sciences King’s College London London UK Institute of Microbiology Lausanne University Hospital and University of Lausanne Lausanne Switzerland Global Health Institute School of Life Sciences École Polytechnique Fédérale de Lausanne Lausanne Switzerland Swiss Institute of Bioinformatics Lausanne Switzerland Precision Medicine Unit Biomedical Data Science Center Lausanne University Hospital (CHUV) and University of Lausanne Lausanne Switzerland The African Computational Genomics (TACG) Research Group MRC/UVRI and LSHTM Uganda Research Unit Entebbe Uganda Department of Non-Communicable Disease Epidemiology Faculty of Epidemiology and Population Health London School of Hygiene and Tropical Medicine London UK The Jackson Laboratory for Genomic Medicine Farmington CT USA Department of Pathology Stanford University School of Medicine Stanford CA USA Department of Genetics Stanford University School of Medicine Stanford CA USA Division of Infectious Diseases Feinberg School of Medicine Northwestern University Chicago IL USA Basic Science Program Frederick National Laboratory for Cancer Research National Cancer Institute Frederick MD USA Laboratory of Integrative Cancer Immunology Center for Cancer Research National Cancer Institute Bethesda

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Corrigendum to “Inhibition of colorectal cancer targets IL-6, CTLA-4, & B7-2 by Tislelizumab: Molecular docking, dynamics, & STRING protein-protein network analysis” [Inform Med Unlocked 41 (2023) 101323]

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Informatics in Medicine Unlocked 2023年 43卷

作者： Mahmoud Elkazzaz Mahmoud Abdalrahman Shahid Ullah Israa M. Shamkh Amr Ahmed Ted X. Wu Maii S. Elsharayidi Mohammad Shahbaz Khan Aziz-ur Rehman Marwa M. Lotfy Abdullah Haikal Tianshun Gao Department of Chemistry and Biochemistry Faculty of Science Damietta University Damietta 7952567 Egypt Science Department Milton Academy Milton MA 02186 USA Lowell Institute CPS Northeastern University 360 Huntington Ave Boston MA 02115 USA S Khan Lab Mardan Khyber Pakhtunkhwa Pakistan Chemo and Bioinformatics Lab Bio Search Research Institution BSRI Giza 12613 Egypt Public Health Department First Health Cluster Ministry of Health Riyadh 966-11 Saudi Arabia Central Public Health Laboratories Egyptian Ministry of Health Egypt Children's National Hospital Washington DC USA Keystone Pharmacogenomics LLC Bensalem PA 19020 USA Faculty of Pharmacy Zagazig University Zagazig 44511 Egypt Department of Pharmacognosy Faculty of Pharmacy Mansoura University Mansoura 35516 Egypt Big Data Center The Seventh Affiliated Hospital of Sun Yat-sen University Shenzhen 518107 PR China

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Author Correction: A comprehensive update to the Mycobacterium tuberculosis H37Rv reference genome

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Nature communications 2022年第1期13卷 7538页

作者： Poonam Chitale Alexander D Lemenze Emily C Fogarty Avi Shah Courtney Grady Aubrey R Odom-Mabey W Evan Johnson Jason H Yang A Murat Eren Roland Brosch Pradeep Kumar David Alland Ray V. Lourenco Center for the Study of Emerging and Re-emerging Pathogens Rutgers University-New Jersey Medical School Newark NJ USA. Public Health Research Institute Rutgers University-New Jersey Medical School Newark NJ USA. Department of Pathology Immunology and Laboratory Medicine New Jersey Medical School Rutgers-The State University of New Jersey Newark NJ USA. Department of Medicine University of Chicago Chicago IL USA. Committee on Microbiology University of Chicago Chicago IL USA. Department of Microbiology Biochemistry and Molecular Genetics Rutgers University-New Jersey Medical School Newark NJ USA. Division of Computational Biomedicine Boston University School of Medicine and Bioinformatics Program Boston University Boston MA USA. Bioinformatics Program Boston University Boston MA USA. Center for Data Science Rutgers University-New Jersey Medical School Newark NJ USA. Helmholtz Institute for Functional Marine Biodiversity (HIFMB) Oldenburg Germany. Bay Paul Center Marine Biological Laboratory Woods Hole MA USA. Institut Pasteur Université Paris Cité Unit for Integrated Mycobacterial Pathogenomics CNRS UMR 6047 Paris France. Ray V. Lourenco Center for the Study of Emerging and Re-emerging Pathogens Rutgers University-New Jersey Medical School Newark NJ USA. allandda@njms.rutgers.edu. Public Health Research Institute Rutgers University-New Jersey Medical School Newark NJ USA. allandda@njms.rutgers.edu.

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Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

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npj Genomic Medicine 2024年第1期9卷 49页

作者： Demidov, German Yaldiz, Burcu Garcia-Pelaez, José de Boer, Elke Schuermans, Nika Van de Vondel, Liedewei Paramonov, Ida Johansson, Lennart F. Musacchia, Francesco Benetti, Elisa Bullich, Gemma Sablauskas, Karolis Beltran, Sergi Gilissen, Christian Hoischen, Alexander Ossowski, Stephan de Voer, Richarda Lohmann, Katja Oliveira, Carla Topf, Ana Vissers, Lisenka E. L. M. Zguro, Kristina Zara, Federico Zaganas, Ioannis Yépez, Vicente A. Wirth, Brunhilde Webb, David Verdin, Hannah Van Nieuwenhove, Erika van Montfrans, Joris van Heurck, Roxane van der Veken, Lars Valle, Laura Uva, Paolo Udd, Bjarne Trimouille, Aurelien Thompson, Rachel Tartaglia, Marco Sznajer, Yves Striano, Pasquale Steinke-Lange, Verena Spilioti, Martha Scudieri, Paolo Schröck, Evelin Schon, Katherine Scala, Marcello Savarese, Marco Santen, Gijs W. E. Rump, Andreas Ruivenkamp, Claudia A. L. Roos, Andreas Rooryck, Caroline Riva, Antonella Renieri, Alessandra Ratnaike, Thiloka Radio, Francesca Clementina Privitera, Flavia De la Paz, Manuel Posada Poppe, Bruce Polavarapu, Kiran Platzer, Konrad Peterlin, Borut Pérez-Dueñas, Belén Pauly, Martje Parrini, Elena Olimpio, Catarina Reghan, Mary O. de Benito, Daniel Natera Osorio, Andrés Nascimento Munell, Francina Münchau, Alexander Moortgat, Stéphanie Monestier, Olivier Molnar, Maria Judit Meunier, Colombine Mertes, Christian Mei, Davide Maystadt, Isabelle May, Patrick Maver, Ales Mathioudakis, Lambros Masclaux, Frédéric Mary, Sandrine Delgado, Beatriz Martínez Marcé-Grau, Anna Malaichamy, Sivasankar Macaya, Alfons Luknárová, Rebeka Martín, Estrella López Lochmüller, Hanns Leitão, Elsa Lederer, Damien Leavis, Helen Laner, Andreas Lacombe, Didier Krass, Leon Korff, Christian Kokosali, Evgenia Karakaya, Mert Karadurmus, Deniz Kapaki, Elisabeth Johari, Mridul Iacomino, Michele Huibers, Manon Horvath, Rita Holinski-Feder, Elke Hoffer, Mariette J. V. Herzog, Rebecca Hemelsoet, Dimitri Bouveret, Eva Hammar Haimel, Matthias Hackman, Peter Guerrini, Renzo Grimbacher, Bodo Greally, Marie Ghani, Hamidah Gagneur, Julien Institute of Medical Genetics and Applied Genomics University of Tübingen Tübingen Germany Institute for Bioinformatics and Medical Informatics (IBMI) University of Tübingen Tübingen Germany Department of Human Genetics Radboud University Medical Center Nijmegen Netherlands Department of Clinical Genetics Maastricht University Medical Center Maastricht Netherlands i3S - Instituto de Investigação e Inovação em Saúde Rua Alfredo Allen 208 Porto 4200-135 Portugal IPATIMUP - Institute of Molecular Pathology and Immunology University of Porto Porto Portugal Faculty of Medicine University of Porto Porto Portugal Donders Institute for Brain Cognition and Behaviour Radboud University Nijmegen Netherlands Department of Clinical Genetics Erasmus MC University Medical Center Rotterdam Netherlands Center for Medical Genetics Ghent University Hospital Ghent Belgium Translational Neurosciences Faculty of Medicine and Health Sciences University of Antwerp Antwerp Belgium Laboratory of Neuromuscular Pathology Institute Born-Bunge University of Antwerp Antwerp Belgium Centro Nacional de Análisis Genómico (CNAG) C/Baldiri Reixac 4 Barcelona 08028 Spain Universitat de Barcelona (UB) Barcelona Spain University of Groningen University Medical Center Groningen Department of Genetics Groningen Netherlands Center for Human Technologies Italian Institute of Technology (IIT) Genova Italy Telethon Institute for Genetics and Medicine Pozzuoli (Napoli) 80078 Italy Department of Medical Biotechnologies Med Biotech Hub and Competence Center University of Siena Siena 53100 Italy Institute of Data Science and Digital Technologies Vilnius University Vilnius Lithuania Departament de Genètica Microbiologia i Estadística Facultat de Biologia Universitat de Barcelona (UB) Barcelona Spain Radboud Institute for Molecular Life Sciences Nijmegen Netherlands Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI) Radboud University Medical Center Nijmegen N

We report the results of a comprehensive copy number variant (CNV) reanalysis of 9171 exome sequencing datasets from 5757 families affected by a rare disease (RD). The data reanalysed was extremely heterogeneous, having been generated using 28 different enrichment kits by 42 different research groups across Europe partnering in the Solve-RD project. Each research group had previously undertaken their own analysis of the data but failed to identify disease-causing variants. We applied three CNV calling algorithms to maximise sensitivity, and rare CNVs overlapping genes of interest, provided by four partner European Reference Networks, were taken forward for interpretation by clinical experts. This reanalysis has resulted in a molecular diagnosis being provided to 51 families in this sample, with ClinCNV performing the best of the three algorithms. We also identified partially explanatory pathogenic CNVs in a further 34 individuals. This work illustrates the value of reanalysing ES cold cases for CNVs. © The Author(s) 2024.

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