[en] 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.
Research center :
Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)
Disciplines :
Human health sciences: Multidisciplinary, general & others Genetics & genetic processes
Author, co-author :
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.
SOLVE-RD consortium
Riess, Olaf
Haack, Tobias B.
Graessner, Holm
Zurek, Birte
Ellwanger, Kornelia
Sturm, Marc
Park, Joohyun
Schütz, Leon
Schulze-Hentrich, Julia M.
Schüle, Rebecca
Xu, Jishu
Kellner, Melanie
Resch, Baptist
Kolen, Ingrid
Synofzik, Matthis
Wilke, Carlo
Traschütz, Andreas
Beijer, Danique
Heutink, Peter
Schöls, Ludger
Hengel, Holger
Lerche, Holger
Boßelmann, Christian
Kegele, Josua
Lauerer-Braun, Robert
Lauxmann, Stephan
Brunner, Han
Scheffer, Hans
Hoogerbrugge, Nicoline
’t Hoen, Peter A. C.
Steyaert, Wouter
de Voer, Richarda
Kamsteeg, Erik-Jan
van de Warrenburg, Bart
van Os, Nienke
Paske, Iris te
Janssen, Erik
de Boer, Elke
Steehouwer, Marloes
Neveling, Kornelia
van der Sanden, Bart
Sagath, Lydia
Kleefstra, Tjitske
Brookes, Anthony J.
Gibson, Spencer
Riaz, Umar
Warren, Greg
Nalagandla, Sai Anuhya
Wang, Yunze Patrick
Sukumaran, Deepthi
Abadijou, Sadegh
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
Couturier, Victor
Gut, Ivo Glynne
Piscia, Davide
Matalonga, Leslie
Papakonstantinou, Anastasios
Corvo, Alberto
Fernandez-Callejo, Marcos
Hernández, Carles
Picó, Daniel
Codina, Anna Esteve
Dabad, Marc
Gut, Marta
Raineri, Emanuele
Gumus, Gulcin
Bros-Facer, Virginie
Rath, Ana
Hanauer, Marc
Lagorce, David
Hongnat, Oscar
Chahdil, Maroua
Lucano, Caterina
Lebreton, Emeline
Stevanin, Giovanni
Durr, Alexandra
Davoine, Claire-Sophie
Guillot-Noel, Léna
Heinzmann, Anna
Coarelli, Giulia
Bonne, Gisèle
Evangelista, Teresinha
Allamand, Valérie
Nelson, Isabelle
Ben Yaou, Rabah
Metay, Corinne
Eymard, Bruno
Cohen, Enzo
Atalaia, Antonio
Stojkovic, Tanya
Macek, Milan
Turnovec, Marek
Thomasová, Dana
Kremliková, Radka Pourová
Franková, Vera
Havlovicová, Markéta
Ryba, Lukáš
Lišková, Petra
Doležalová, Pavla
Krebsová, Alice
Parkinson, Helen
Keane, Thomas
Freeberg, Mallory
Thomas, Coline
Spalding, Dylan
Robinson, Peter
Danis, Daniel
Robert, Glenn
Costa, Alessia
Hanna, Mike
Houlden, Henry
Reilly, Mary
Vandrovcova, Jana
Efthymiou, Stephanie
Morsy, Heba
Cali, Elisa
Magrinelli, Francesca
Sisodiya, Sanjay M.
Bellampalli, Ravishankara
Moloney, Patrick
Rohrer, Jonathan
Muntoni, Francesco
Zaharieva, Irina
Sarkozy, Anna
Perry, Luke
Pini, Veronica
Müller, Juliane
Timmerman, Vincent
Baets, Jonathan
de Vries, Geert
De Winter, Jonathan
de Jonghe, Peter
Van de Vondel, Liedewei
De Ridder, Willem
Weckhuysen, Sarah
Stamberger, Hannah
Millevert, Charissa
Smal, Noor
Nigro, Vincenzo
Morleo, Manuela
Pinelli, Michele
Banfi, Sandro
Torella, Annalaura
Zeuli, Roberta
Zanobio, Mariateresa
Piluso, Giulio
Ferlini, Alessandra
Selvatici, Rita
Gualandi, Francesca
Bigoni, Stefania
Neri, Marcella
Aretz, Stefan
Spier, Isabel
Sommer, Anna Katharina
Peters, Sophia
Barbosa-Matos, Rita
José, Celina São
Ferreira, Marta
Gullo, Irene
Fernandes, Susana
Garrido, Luzia
Ferreira, Pedro
Carneiro, Fátima
Swertz, Morris A.
van der Velde, Joeri K.
van der Vries, Gerben
Neerincx, Pieter B.
Roelofs-Prins, Dieuwke
Ruvolo, David
van Gijn, Marielle
Abbott, Kristin M.
Kerstjens Frederikse, Wilhemina S.
Zonneveld-Huijssoon, Eveline
Köhler, Sebastian
Metcalfe, Alison
Moore, Richard
Verloes, Alain
Drunat, Séverine
Heron, Delphine
Mignot, Cyril
Keren, Boris
de Sainte Agathe, Jean-Madeleine
Jamra, Rami Abou
Abramowicz, Marc
Kiliçarslan, Özge Aksel
Allen, Nicholas
Javier Alonso García de la Rosa, Francisco
Balestrini, Simona
Balicza, Peter
Bartolomaeus, Tobias
Başak, Ayşe Nazl
Masó, Laura Batlle
Beeson, David
Benoit, Valerie
Benson, Katherine
Sánchez, Eva Bermejo
Bijlsma, Emilia K.
Bogaert, Elke
Bourbouli, Mara
Boztug, Kaan
Brohée, Sylvain
Byrne, Susan
Garcia de Oteyza, Andrés Caballero
Capella, Gabriel
Carpancea, Evelina
Cavalleri, Gianpiero
Cazurro-Gutiérrez, Ana
Chinnery, Patrick F.
Cilio, Maria-Roberta
Ciolfi, Andrea
Claeys, Kristl
Colobran, Roger
Cordts, Isabell
Cossins, Judith
Dahan, Karin
Dallapiccola, Bruno
Delanty, Norman
Depienne, Christel
Depondt, Chantal
Dermaut, Bart
Deschauer, Marcus
Desir, Julie
Destrée, Anne
Drakos, Minas
Duerinckx, Sarah
Estevez, Berta
Evangeliou, Athanasios
Fallerini, Chiara
Ferilli, Marco
Furini, Simone
Gagneur, Julien
Ghani, Hamidah
Greally, Marie
Grimbacher, Bodo
Guerrini, Renzo
Hackman, Peter
Haimel, Matthias
Bouveret, Eva Hammar
Hemelsoet, Dimitri
Herzog, Rebecca
Hoffer, Mariette J. V.
Holinski-Feder, Elke
Horvath, Rita
Huibers, Manon
Iacomino, Michele
Johari, Mridul
Kapaki, Elisabeth
Karadurmus, Deniz
Karakaya, Mert
Kokosali, Evgenia
Korff, Christian
Krass, Leon
Lacombe, Didier
Laner, Andreas
Leavis, Helen
Lederer, Damien
Leitão, Elsa
Lochmüller, Hanns
Martín, Estrella López
Luknárová, Rebeka
Macaya, Alfons
Malaichamy, Sivasankar
Marcé-Grau, Anna
Delgado, Beatriz Martínez
Mary, Sandrine
Masclaux, Frédéric
Mathioudakis, Lambros
Maver, Ales
MAY, Patrick ; University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Bioinformatics Core
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