Article (Scientific journals)
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
Yaldiz, Burcu; Kucuk, Erdi; Hampstead, Juliet et al.
2023In Human Genomics, 17 (1), p. 39
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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 center :
- Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)
Disciplines :
Genetics & genetic processes
Human health sciences: Multidisciplinary, general & others
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
More authors (295 more) Less
External co-authors :
yes
Language :
English
Title :
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
Publication date :
03 May 2023
Journal title :
Human Genomics
ISSN :
1479-7364
Publisher :
BioMed Central, United Kingdom
Volume :
17
Issue :
1
Pages :
39
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBilu :
since 07 May 2023

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