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IEEE International Conference on bioinformatics and Computational Biology (ICBCB)

作者： Le Sy Vinh Next Generation Genome Technology and Bioinformatics University of Engineering and Technology Vietnam National University Hanoi Hanoi Vietnam

ISBN: (数字)9798350375749

ISBN: (纸本)9798350375756

Noninvasive prenatal test (NIPT) has become a routine screening method to detect autosomal chromosomal aberrations. Predicting sex chromosome aneuploidies (SCAs) is more difficult due to the complicated genomic characteristics of sex chromosomes. Benchmarking the sensitivity of NIPT algorithms is challenging due to the lack of positive samples. In this paper, we introduce simple and efficient computational methods to create aberrations on sex chromosomes for NIPT male samples (i.e., creating male samples with XXY or XYY aberrations) from negative NIPT samples. We applied the methods to create 513 positive samples with XXY aberrations and 200 positive samples with XYY aberrations to evaluate the sensitivity of three NIPT algorithms WisecondorX, its improvement VINIPT, and CNVkit. Experiements on both negative and positive samples showed that the algorithms have high sensitivity in detecting XXY and XYY aberrations (100% for WisecondorX and VINIPT; and 99.2% for CNVkit). The VINIPT algorithm has an overall specificity of 99.8% and better than WisecondorX (∼96.8%) and CNVkit (∼99%). The results indicate that VINIPT can play as a powerful tool for screening aberrations on sex chromosomes of male samples.

关键词： Sensitivity Software algorithms Genomics Benchmark testing Sensitivity and specificity Prediction algorithms Software Computational efficiency bioinformatics Biological cells

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An Efficient Computational Method to Create Positive NIPT Samples with Autosomal Trisomy

An Efficient Computational Method to Create Positive NIPT Sa...

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IEEE International Conference on bioinformatics and Computational Biology (ICBCB)

作者： Tinh H. Nguyen Huynh V. Nguyen Minh D. Pham Vinh S. Le VNU University of Engineering and Technology Hanoi Vietnam GENTIS Hanoi Vietnam Next Generation Genome Technology and Bioinformatics VNU University of Engineering and Technology Hanoi Vietnam

ISBN: (数字)9798350375749

ISBN: (纸本)9798350375756

Noninvasive prenatal test (NIPT) has been widely used for screening trisomy on chromosomes 13 (T13), 18 (T18), and 21 (T21). However, the false negative rate of NIPT algorithms has not been thoroughly evaluated due to the lack of positive samples. In this study, we present an efficient computational approach to create positive samples with autosomal trisomy from negative samples. We applied the approach to establish a low coverage dataset of 1440 positive samples with T13, T18, and T21 aberrations for both mosaic and non-mosaic conditions. We examined the performance of WisecondorX and its improvement, called VINIPT, on both negative and positive datasets. Experiments showed that WisecondorX and VINIPT were able to detect all non-mosaic samples with T13, T18, and T21 aberrations (i.e., the sensitivity of 100%). When analyzing mosaic samples, both WisecondorX and VINIPT have the overall sensitivity of 99.7% on detecting T13, T18, and T21 aberrations from mosaic samples. WisecondorX has the specificity of 98.5% for the nonmosaic analysis, but a considerably lower specificity of 95% for the mosaic analysis. VINIPT has a much better specificity than WisecondorX, i.e., 99.9% for the non-mosaic analysis, and 98.2% for the mosaic analysis. The results suggest that VINIPT can play as a powerful tool for detecting autosomal trisomy from the low coverage data.

关键词： Sensitivity Software algorithms Sensitivity and specificity Software Computational efficiency Software reliability bioinformatics Biological cells Computational biology

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The European Reference genome Atlas: piloting a decentralised approach to equitable biodiversity genomics

NPJ Biodiversity

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NPJ Biodiversity 2024年第1期3卷 28页

作者： Mc Cartney, Ann M. Formenti, Giulio Mouton, Alice De Panis, Diego Marins, Luísa S. Leitão, Henrique G. Diedericks, Genevieve Kirangwa, Joseph Morselli, Marco Salces-Ortiz, Judit Escudero, Nuria Iannucci, Alessio Natali, Chiara Svardal, Hannes Fernández, Rosa De Pooter, Tim Joris, Geert Strazisar, Mojca Wood, Jonathan M. D. Herron, Katie E. Seehausen, Ole Watts, Phillip C. Shaw, Felix Davey, Robert P. Minotto, Alice Fernández, José M. Böhne, Astrid Alegria, Carla Alioto, Tyler Alves, Paulo C. Amorim, Isabel R. Aury, Jean-Marc Backstrom, Niclas Baldrian, Petr Baltrunaite, Laima Barta, Endre Bedhom, Bertrand Belser, Caroline Bergsten, Johannes Bertrand, Laurie Bilandija, Helena Binzer-Panchal, Mahesh Bista, Iliana Blaxter, Mark Borges, Paulo A. V. Dias, Guilherme Borges Bosse, Mirte Brown, Tom Bruggmann, Rémy Buena-Atienza, Elena Burgin, Josephine Buzan, Elena Cariani, Alessia Casadei, Nicolas Chiara, Matteo Chozas, Sergio Jr, Fedor Čiampor Crottini, Angelica Cruaud, Corinne Cruz, Fernando Dalen, Love Biase, Alessiode Delcampo, Javier Delic, Teo Dennis, Aliceb. Derks, Martijn F. L. Diroma, Maria Angela Djan, Mihajla Duprat, Simone Eleftheriadi, Klara Feulner, Philine G. D. Flot, Jean-François Forni, Giobbe Fosso, Bruno Fournier, Pascal Fournier-Chambrillon, Christine Gabaldon, Toni Garg, Shilpa Gissi, Carmela Giupponi, Luca Gomez-Garrido, Jessica González, Josefa Grilo, Miguel L. Grüning, Björn Guerin, Thomas Guiglielmoni, Nadege Gut, Marta Haesler, Marcel P. Hahn, Christoph Halpern, Balint Harrison, Peter W. Heintz, Julia Hindrikson, Maris Höglund, Jacob Howe, Kerstin Hughes, Graham M. Istace, Benjamin Cock, Mark J. Janžekovič, Franc Jonsson, Zophonias O. Joye-Dind, Sagane Koskimäki, Janne J. Krystufek, Boris Kubacka, Justyna Kuhl, Heiner Kusza, Szilvia Labadie, Karine Lähteenaro, Meri Lantz, Henrik Lavrinienko, Anton Leclère, Lucas Lopes, Ricardo Jorge Madsen, Ole Magdelenat, Ghislaine Magoga, Giulia Manousaki, Tereza Mappes, Tapio Marques, Joao Pedro Redondo, Gemma I. Martinez Maumus, Florian McCarthy, Shane A. M Genomics Institute University of California SantaCruz CA United States TheVertebrate Genome Laboratory The Rockefeller University NewYork NY United States Department of Biology University of Florence Sesto Fiorentino Italy InBios-Conservation Genetics Laboratory University of Liege Liege Belgium Leibniz Institut für Zoo und Wildtierforschung Berlin Germany Berlin Center for Genomics in Biodiversity Research Berlin Germany Department of Biology University of Antwerp Antwerp Belgium Institute of Zoology University of Cologne Cologne Germany Department of Chemistry Life Sciences and Environmental Sustainability University of Parma Parma Italy Institute of Evolutionary Biology (CSIC-Universitat Pompeu Fabra Barcelona Spain Naturalis Biodiversity Center Leiden Netherlands Neuromics Support Facility VIB Center for Molecular Neurology VIB Antwerp Belgium Neuromics Support Facility Department of Biomedical SciencesUniversity ofAntwerp Antwerp Belgium Tree of Life WellcomeSanger Institute Cambridge Hinxton United Kingdom School of Biology and Environmental Science University College Dublin Belfield Ireland Aquatic Ecology & Evolution Institute of Ecology & Evolution University of Bern Bern Switzerland Department of Fish Ecology & Evolution Eawag Kastanienbaum Switzerland Department of Biological and Environmental Science University of Jyvaskyla Jyvaskyla Finland The EarlhamInstitute NorwichResearchPark Norwich United Kingdom Digital Science London United Kingdom Barcelona Supercomputing Center Spanish National Bioinformatics Institute ELIXIR Spain Getafe Spain Leibniz Institute for the Analysis of Biodiversity Change Museum Koenig Bonn Bonn Germany CE3C—Centre for Ecology Evolution and Environmental Changes & CHANGE—Global Change and Sustainability Institute Faculdade de Ciências Universidade de Lisboa Campo Grande Lisboa Portugal Centro Nacional de Análisis Genómico (CNAG) Barcelona Spain Universitat de Barcelona (UB) Barcelona Spain CIBIO Cen

A genomic database of all Earth’s eukaryotic species could contribute to many scientific discoveries;however, only a tiny fraction of species have genomic information available. In 2018, scientists across the world united under the Earth Biogenome Project (EBP), aiming to produce a database of highquality reference genomes containing all ~1.5 million recognized eukaryotic species. As the European node of the EBP, the European Reference genome Atlas (ERGA) sought to implement a new decentralised, equitable and inclusive model for producing reference genomes. For this, ERGA launched a Pilot Project establishing the first distributed reference genome production infrastructure and testing it on 98 eukaryotic species from 33 European countries. Here we outline the infrastructure and explore its effectiveness for scaling high-quality reference genome production, whilst considering equity and inclusion. The outcomes and lessons learned provide a solid foundation for ERGA while offering key learnings to other transnational, national genomic resource projects and the EBP. © The Author(s) 2024, corrected publication 2024.

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Author Correction: The European Reference genome Atlas: piloting a decentralised approach to equitable biodiversity genomics

npj biodiversity

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npj biodiversity 2024年第1期3卷 31页

作者： Ann M Mc Cartney Giulio Formenti Alice Mouton Diego De Panis Luísa S Marins Henrique G Leitão Genevieve Diedericks Joseph Kirangwa Marco Morselli Judit Salces-Ortiz Nuria Escudero Alessio Iannucci Chiara Natali Hannes Svardal Rosa Fernández Tim De Pooter Geert Joris Mojca Strazisar Jonathan M D Wood Katie E Herron Ole Seehausen Phillip C Watts Felix Shaw Robert P Davey Alice Minotto José M Fernández Astrid Böhne Carla Alegria Tyler Alioto Paulo C Alves Isabel R Amorim Jean-Marc Aury Niclas Backstrom Petr Baldrian Laima Baltrunaite Endre Barta Bertrand BedHom Caroline Belser Johannes Bergsten Laurie Bertrand Helena Bilandija Mahesh Binzer-Panchal Iliana Bista Mark Blaxter Paulo A V Borges Guilherme Borges Dias Mirte Bosse Tom Brown Rémy Bruggmann Elena Buena-Atienza Josephine Burgin Elena Buzan Alessia Cariani Nicolas Casadei Matteo Chiara Sergio Chozas Fedor Čiampor Angelica Crottini Corinne Cruaud Fernando Cruz Love Dalen Alessio De Biase Javier Del Campo Teo Delic Alice B Dennis Martijn F L Derks Maria Angela Diroma Mihajla Djan Simone Duprat Klara Eleftheriadi Philine G D Feulner Jean-François Flot Giobbe Forni Bruno Fosso Pascal Fournier Christine Fournier-Chambrillon Toni Gabaldon Shilpa Garg Carmela Gissi Luca Giupponi Jessica Gomez-Garrido Josefa González Miguel L Grilo Björn Grüning Thomas Guerin Nadege Guiglielmoni Marta Gut Marcel P Haesler Christoph Hahn Balint Halpern Peter W Harrison Julia Heintz Maris Hindrikson Jacob Höglund Kerstin Howe Graham M Hughes Benjamin Istace Mark J Cock Franc Janžekovič Zophonias O Jonsson Sagane Joye-Dind Janne J Koskimäki Boris Krystufek Justyna Kubacka Heiner Kuhl Szilvia Kusza Karine Labadie Meri Lähteenaro Henrik Lantz Anton Lavrinienko Lucas Leclère Ricardo Jorge Lopes Ole Madsen Ghislaine Magdelenat Giulia Magoga Tereza Manousaki Tapio Mappes Joao Pedro Marques Gemma I Martinez Redondo Florian Maumus Shane A McCarthy Hendrik-Jan Megens Jose Melo-Ferreira Sofia L Mendes Matteo Montagna Joao Moreno Mai-Britt Mosbech Mónica Moura Zuzana Musilova Eugene Myers Will J N Genomics Institute University of California Santa Cruz CA USA. anmmccar@ucsc.edu. The Vertebrate Genome Laboratory The Rockefeller University New York NY USA. Department of Biology University of Florence Sesto Fiorentino Italy. InBios-Conservation Genetics Laboratory University of Liege Liege Belgium. Leibniz Institut für Zoo und Wildtierforschung Berlin Germany. Berlin Center for Genomics in Biodiversity Research Berlin Germany. Department of Biology University of Antwerp Antwerp Belgium. Institute of Zoology University of Cologne Cologne Germany. Department of Chemistry Life Sciences and Environmental Sustainability University of Parma Parma Italy. Institute of Evolutionary Biology (CSIC-Universitat Pompeu Fabra) Barcelona Spain. Naturalis Biodiversity Center Leiden The Netherlands. Neuromics Support Facility VIB Center for Molecular Neurology VIB Antwerp Belgium. Neuromics Support Facility Department of Biomedical Sciences University of Antwerp Antwerp Belgium. Tree of Life Wellcome Sanger Institute Hinxton Cambridge UK. School of Biology and Environmental Science University College Dublin Belfield Ireland. Aquatic Ecology & Evolution Institute of Ecology & Evolution University of Bern Bern Switzerland. Department of Fish Ecology & Evolution Eawag Kastanienbaum Switzerland. Department of Biological and Environmental Science University of Jyvaskyla Jyvaskyla Finland. The Earlham Institute Norwich Research Park Norwich UK. Digital Science London UK. Barcelona Supercomputing Center Spanish National Bioinformatics Institute ELIXIR Spain Getafe Spain. Leibniz Institute for the Analysis of Biodiversity Change Museum Koenig Bonn Bonn Germany. CE3C-Centre for Ecology Evolution and Environmental Changes & CHANGE-Global Change and Sustainability Institute Faculdade de Ciências Universidade de Lisboa Campo Grande Lisboa Portugal. Centro Nacional de Análisis Genómico (CNAG) Barcelona Spain. Universitat de Barcelona (UB) Barcelona Spain. CIBIO C

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