Title : Twist exome capture allows for lower average sequence coverage in clinical exome sequencing Language : English Author, co-author : Yaldiz, Burcu [> >] Kucuk, Erdi [> >] Hampstead, Juliet [> >] Hofste, Tom [> >] Pfundt, Rolph [> >] Corominas Galbany, Jordi [> >] Rinne, Tuula [> >] Yntema, Helger G. [> >] Hoischen, Alexander [> >] Nelen, Marcel [> >] Gilissen, Christian [> >] consortium, Solve-R. D. [> >] Riess, Olaf [> >] Haack, Tobias B. [> >] Graessner, Holm [> >] Zurek, Birte [> >] Ellwanger, Kornelia [> >] Ossowski, Stephan [> >] Demidov, German [> >] Sturm, Marc [> >] Schulze-Hentrich, Julia M. [> >] Schüle, Rebecca [> >] Xu, Jishu [> >] Kessler, Christoph [> >] Wayand, Melanie [> >] Synofzik, Matthis [> >] Wilke, Carlo [> >] Traschütz, Andreas [> >] Schöls, Ludger [> >] Hengel, Holger [> >] Lerche, Holger [> >] Kegele, Josua [> >] Heutink, Peter [> >] Brunner, Han [> >] Scheffer, Hans [> >] Hoogerbrugge, Nicoline [> >] Hoischen, Alexander [> >] Hoen, Peter A. C. T [> >] Vissers, Lisenka E. L. M. [> >] Gilissen, Christian [> >] Steyaert, Wouter [> >] Sablauskas, Karolis [> >] de Voer, Richarda M. [> >] Kamsteeg, Erik-Jan [> >] van de Warrenburg, Bart [> >] van Os, Nienke [> >] te Paske, Iris [> >] Janssen, Erik [> >] de Boer, Elke [> >] Steehouwer, Marloes [> >] Yaldiz, Burcu [> >] Kleefstra, Tjitske [> >] Brookes, Anthony J. [> >] Veal, Colin [> >] Gibson, Spencer [> >] Maddi, Vatsalya [> >] Mehtarizadeh, Mehdi [> >] Riaz, Umar [> >] Warren, Greg [> >] Dizjikan, Farid Yavari [> >] Shorter, Thomas [> >] Töpf, Ana [> >] Straub, Volker [> >] Bettolo, Chiara Marini [> >] Manera, Jordi Diaz [> >] Hambleton, Sophie [> >] Engelhardt, Karin [> >] Clayton-Smith, Jill [> >] Banka, Siddharth [> >] Alexander, Elizabeth [> >] Jackson, Adam [> >] Faivre, Laurence [> >] Thauvin, Christel [> >] Vitobello, Antonio [> >] Denommé-Pichon, Anne-Sophie [> >] Duffourd, Yannis [> >] Bruel, Ange-Line [> >] Peyron, Christine [> >] Pélissier, Aurore [> >] Beltran, Sergi [> >] Gut, Ivo Glynne [> >] Laurie, Steven [> >] Piscia, Davide [> >] Matalonga, Leslie [> >] Papakonstantinou, Anastasios [> >] Bullich, Gemma [> >] Corvo, Alberto [> >] Fernandez-Callejo, Marcos [> >] Hernández, Carles [> >] Picó, Daniel [> >] Paramonov, Ida [> >] Lochmüller, Hanns [> >] Gumus, Gulcin [> >] Bros-Facer, Virginie [> >] Rath, Ana [> >] Hanauer, Marc [> >] Lagorce, David [> >] Hongnat, Oscar [> >] Chahdil, Maroua [> >] Lebreton, Emeline [> >] Stevanin, Giovanni [> >] Durr, Alexandra [> >] Davoine, Claire-Sophie [> >] Guillot-Noel, Léna [> >] Heinzmann, Anna [> >] Coarelli, Giulia [> >] Bonne, Gisèle [> >] Evangelista, Teresinha [> >] Allamand, Valérie [> >] Nelson, Isabelle [> >] Yaou, Rabah Ben [> >] Metay, Corinne [> >] Eymard, Bruno [> >] Cohen, Enzo [> >] Atalaia, Antonio [> >] Stojkovic, Tanya [> >] Macek, Milan [> >] Turnovec, Marek [> >] Thomasová, Dana [> >] Kremliková, Radka Pourová [> >] Franková, Vera [> >] Havlovicová, Markéta [> >] Lišková, Petra [> >] Doležalová, Pavla [> >] Parkinson, Helen [> >] Keane, Thomas [> >] Freeberg, Mallory [> >] Thomas, Coline [> >] Spalding, Dylan [> >] Robinson, Peter [> >] Danis, Daniel [> >] Robert, Glenn [> >] Costa, Alessia [> >] Patch, Christine [> >] Hanna, Mike [> >] Houlden, Henry [> >] Reilly, Mary [> >] Vandrovcova, Jana [> >] Efthymiou, Stephanie [> >] Morsy, Heba [> >] Cali, Elisa [> >] Magrinelli, Francesca [> >] Sisodiya, Sanjay M. [> >] Rohrer, Jonathan [> >] Muntoni, Francesco [> >] Zaharieva, Irina [> >] Sarkozy, Anna [> >] Timmerman, Vincent [> >] Baets, Jonathan [> >] de Vries, Geert [> >] De Winter, Jonathan [> >] Beijer, Danique [> >] de Jonghe, Peter [> >] Van de Vondel, Liedewei [> >] De Ridder, Willem [> >] Weckhuysen, Sarah [> >] Nigro, Vincenzo [> >] Mutarelli, Margherita [> >] Morleo, Manuela [> >] Pinelli, Michele [> >] Varavallo, Alessandra [> >] Banfi, Sandro [> >] Torella, Annalaura [> >] Musacchia, Francesco [> >] Piluso, Giulio [> >] Ferlini, Alessandra [> >] Selvatici, Rita [> >] Gualandi, Francesca [> >] Bigoni, Stefania [> >] Rossi, Rachele [> >] Neri, Marcella [> >] Aretz, Stefan [> >] Spier, Isabel [> >] Sommer, Anna Katharina [> >] Peters, Sophia [> >] Oliveira, Carla [> >] Pelaez, Jose Garcia [> >] Matos, Ana Rita [> >] José, Celina São [> >] Ferreira, Marta [> >] Gullo, Irene [> >] Fernandes, Susana [> >] Garrido, Luzia [> >] Ferreira, Pedro [> >] Carneiro, Fátima [> >] Swertz, Morris A. [> >] Johansson, Lennart [> >] van der Velde, Joeri K. [> >] van der Vries, Gerben [> >] Neerincx, Pieter B. [> >] Ruvolo, David [> >] Abbott, Kristin M. [> >] Frederikse, Wilhemina Skerstjens [> >] Zonneveld-Huijssoon, Eveline [> >] Roelofs-Prins, Dieuwke [> >] van Gijn, Marielle [> >] Köhler, Sebastian [> >] Metcalfe, Alison [> >] Verloes, Alain [> >] Drunat, Séverine [> >] Heron, Delphine [> >] Mignot, Cyril [> >] Keren, Boris [> >] de Sainte Agathe, Jean-Madeleine [> >] Rooryck, Caroline [> >] Lacombe, Didier [> >] Trimouille, Aurelien [> >] De la Paz, Manuel Posada [> >] Sánchez, Eva Bermejo [> >] Martín, Estrella López [> >] Delgado, Beatriz Martínez [> >] de la Rosa, F. Javier Alonso García [> >] Ciolfi, Andrea [> >] Dallapiccola, Bruno [> >] Pizzi, Simone [> >] Radio, Francesca Clementina [> >] Tartaglia, Marco [> >] Renieri, Alessandra [> >] Furini, Simone [> >] Fallerini, Chiara [> >] Benetti, Elisa [> >] Balicza, Peter [> >] Molnar, Maria Judit [> >] Maver, Ales [> >] Peterlin, Borut [> >] Münchau, Alexander [> >] Lohmann, Katja [> >] Herzog, Rebecca [> >] Pauly, Martje [> >] Macaya, Alfons [> >] Cazurro-Gutiérrez, Ana [> >] Pérez-Dueñas, Belén [> >] Munell, Francina [> >] Jarava, Clara Franco [> >] Masó, Laura Batlle [> >] Marcé-Grau, Anna [> >] Colobran, Roger [> >] Osorio, Andrés Nascimento [> >] de Benito, Daniel Natera [> >] Lochmüller, Hanns [> >] Thompson, Rachel [> >] Polavarapu, Kiran [> >] Grimbacher, Bodo [> >] Beeson, David [> >] Cossins, Judith [> >] Hackman, Peter [> >] Johari, Mridul [> >] Savarese, Marco [> >] Udd, Bjarne [> >] Horvath, Rita [> >] Chinnery, Patrick F. [> >] Ratnaike, Thiloka [> >] Gao, Fei [> >] Schon, Katherine [> >] Capella, Gabriel [> >] Valle, Laura [> >] Holinski-Feder, Elke [> >] Laner, Andreas [> >] Steinke-Lange, Verena [> >] Schröck, Evelin [> >] Rump, Andreas [> >] Başak, Ayşe Nazlı [> >] Hemelsoet, Dimitri [> >] Dermaut, Bart [> >] Schuermans, Nika [> >] Poppe, Bruce [> >] Verdin, Hannah [> >] Mei, Davide [> >] Vetro, Annalisa [> >] Balestrini, Simona [> >] Guerrini, Renzo [> >] Claeys, Kristl [> >] Santen, Gijs W. E. [> >] Bijlsma, Emilia K. [> >] Hoffer, Mariette J. V. [> >] Ruivenkamp, Claudia A. L. [> >] Boztug, Kaan [> >] Haimel, Matthias [> >] Maystadt, Isabelle [> >] Cordts, Isabelle [> >] Deschauer, Marcus [> >] Zaganas, Ioannis [> >] Kokosali, Evgenia [> >] Lambros, Mathioudakis [> >] Evangeliou, Athanasios [> >] Spilioti, Martha [> >] Kapaki, Elisabeth [> >] Bourbouli, Mara [> >] Striano, Pasquale [> >] Zara, Federico [> >] Riva, Antonella [> >] Iacomino, Michele [> >] Uva, Paolo [> >] Scala, Marcello [> >] Scudieri, Paolo [> >] Cilio, Maria-Roberta [> >] Carpancea, Evelina [> >] Depondt, Chantal [> >] Lederer, Damien [> >] Sznajer, Yves [> >] Duerinckx, Sarah [> >] Mary, Sandrine [> >] Depienne, Christel [> >] Roos, Andreas [> >] May, Patrick [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Bioinformatics Core] Publication date : 3-May-2023 Journal title : Human Genomics Publisher : BioMed Central Volume : 17 Issue/season : 1 Pages : 39 Peer reviewed : Yes ISSN : 1473-9542 e-ISSN : 1479-7364 Country : United Kingdom Abstract : [en] Background Exome and genome sequencing are the predominant techniques in the diagnosis and research of genetic disorders. Sufficient, uniform and reproducible/consistent sequence coverage is a main determinant for the sensitivity to detect single-nucleotide (SNVs) and copy number variants (CNVs). Here we compared the ability to obtain comprehensive exome coverage for recent exome capture kits and genome sequencing techniques. Results We compared three different widely used enrichment kits (Agilent SureSelect Human All Exon V5, Agilent SureSelect Human All Exon V7 and Twist Bioscience) as well as short-read and long-read WGS. We show that the Twist exome capture significantly improves complete coverage and coverage uniformity across coding regions compared to other exome capture kits. Twist performance is comparable to that of both short- and long-read whole genome sequencing. Additionally, we show that even at a reduced average coverage of 70× there is only minimal loss in sensitivity for SNV and CNV detection. Conclusion We conclude that exome sequencing with Twist represents a significant improvement and could be performed at lower sequence coverage compared to other exome capture techniques.Research centres : Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) Target : Researchers ; Professionals Permalink : http://hdl.handle.net/10993/55059 DOI : 10.1186/s40246-023-00485-5 Other URL : https://humgenomics.biomedcentral.com/articles/10.1186/s40246-023-00485-5 
