Reliable and Scalable SARS-CoV-2 qPCR Testing at a High Sample Throughput: Lessons Learned from the Belgian Initiative

Autor: Steven Van Vooren, James Grayson, Marc Van Ranst, Elisabeth Dequeker, Lies Laenen, Reile Janssen, Laurent Gillet, Fabrice Bureau, Wouter Coppieters, Nathalie Devos, Benjamin Hengchen, Pierre Wattiau, Sibylle Méhauden, Yvan Verlinden, Kurt Van Baelen, Theresa Pattery, Jean-Pierre Valentin, Kris Janssen, Martine Geraerts, John Smeraglia, Jan Hellemans, Pieter Wytynck, Pieter Mestdagh, Nienke Besbrugge, René Höfer, Friedel Nollet, Jo Vandesompele, Pieter De Smet, John Lebon, Emmanuel Vandewynckele, Steven Verstrepen, Wouter Uten, Arnaud Capron, Hugues Malonne, Jeroen Poels, Emmanuel André

Publikováno v: Life, Vol 12, Iss 2, p 159 (2022)

We present our approach to rapidly establishing a standardized, multi-site, nation-wide COVID-19 screening program in Belgium. Under auspices of a federal government Task Force responsible for upscaling the country’s testing capacity, we were able

Externí odkaz: https://doaj.org/article/7a200fc5f8174981a15e82afbd3ce110

Critical points for an accurate human genome analysis

Autor: C. Mattocks, Simon Patton, Katherine Payne, Gert Matthijs, Jeroen F.J. Laros, Rachel Thompson, Hans Scheffer, Egbert Bakker, Hanns Lochmüller, Martin Eden, Samantha Leonard, Johan T. den Dunnen, Bart Janssen, Erica Souche, Ellen Thomassen, Anne Cambon-Thomsen, Stefan J. White, Steven Van Vooren, J. Traeger-Synodinos

Publikováno v: Human Mutation, 38, 912-921
White, S J, Laros, J F J, Bakker, E, Cambon-Thomsen, A, Eden, M, Leonard, S, Lochmüller, H, Matthijs, G, Mattocks, C, Patton, S, Payne, K, Scheffer, H, Souche, E, Thomassen, E, Thompson, R, Traeger-Synodinos, J, van Vooren, S, Janssen, B & den Dunnen, J T 2017, ' Critical points for an accurate human genome analysis ', Human Mutation . https://doi.org/10.1002/humu.23238
Human Mutation, 38(8), 912-921
Human Mutation, 38, 8, pp. 912-921

Next-generation sequencing is radically changing how DNA diagnostic laboratories operate. What started as a single-gene profession is now developing into gene panel sequencing and whole exome and genome sequencing (WES/WGS) analyses. With further adv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c3b0b56af0a352be77cee302883cb97
https://pubmed.ncbi.nlm.nih.gov/28697278

Diagnostic interpretation of array data using public databases and internet sources

Autor: Morris A. Swertz, Trijnie Dijkhuizen, Steven Van Vooren, Soheil Shams, Nicole de Leeuw, David H. Ledbetter, Rolf H. Sijmons, Ros Hastings, Robert M. Kuhn, Steven W. Scherer, Helen V. Firth, Lars Feuk, Conny M. A. van Ravenswaaij-Arts, Christa Lese Martin, Nigel P. Carter, Jayne Y. Hehir-Kwa

Publikováno v: Human Mutation, 33, pp. 930-940
Human Mutation, 33, 930-940
Human Mutation, 33(6), 930-940. Wiley

The range of commercially available array platforms and analysis software packages is expanding and their utility is improving, making reliable detection of copy-number variants (CNVs) relatively straightforward. Reliable interpretation of CNV data,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56d66ac23cdc5a5c81fc8daf6a09895c
https://hdl.handle.net/2066/110887

Array comparative genomic hybridization and computational genome annotation in constitutional cytogenetics: suggesting candidate genes for novel submicroscopic chromosomal imbalance syndromes

Autor: Yves Moreau, Joris Vermeesch, Steven Van Vooren, Bert Coessens, Bart De Moor

Publikováno v: Genetics in Medicine. 9:642-649

Genome-wide array comparative genomic hybridization screening is uncovering pathogenic submicroscopic chromosomal imbalances in patients with developmental disorders. In those patients, imbalances appear now to be scattered across the whole genome, a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::600089a8a4c827ff932ba4902a2b1d9b
https://doi.org/10.1097/gim.0b013e318145b27b

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Autor: Danielle L. Brown, Caroline F. Wright, Jane A. Hurst, Richard H. Scott, Nicole L. Washingthon, Melissa A. Haendel, Bert B.A. de Vries, Andrew O.M. Wilkie, Steven Van Vooren, Nicole de Leeuw, Georgios V. Gkoutos, Christopher J. Mungall, Barbara J. Ruef, Paul N. Schofield, Erin Rooney Riggs, Sebastian Bauer, Sahar Mansour, Michael Brudno, Sandra C. Doelken, Anneke T. Vulto-van Silfhout, Christa Lese Martin, Isabelle Bailleul-Forestier, Sebastian Köhler, Sanjay M. Sisodiya, Soo Mi Park, Marta Girdea, Anne M. Kelly, Cynthia L. Smith, Andrew D Mumford, Laird G. Jackson, Andrew P. Jackson, Damian Smedley, Peter N. Robinson, Ronald J. Wapner, Ingo Helbig, Celia Moss, Suzanna E. Lewis, Jennifer Campbell, Janan T. Eppig, Willem H. Ouwehand, David R. FitzPatrick, Graeme C.M. Black, Helen V. Firth, Johanna A. Jähn, David H. Ledbetter, Monte Westerfield, Kathleen Freson

Publikováno v: Nucleic Acids Research, 42, Database issue, pp. D966-74
Köhler, S, Doelken, S C, Mungall, C J, Bauer, S, Firth, H V, Bailleul-Forestier, I, Black, G C M, Brown, D L, Brudno, M, Campbell, J, Fitzpatrick, D R, Eppig, J T, Jackson, A P, Freson, K, Girdea, M, Helbig, I, Hurst, J A, Jähn, J, Jackson, L G, Kelly, A M, Ledbetter, D H, Mansour, S, Martin, C L, Moss, C, Mumford, A, Ouwehand, W H, Park, S-M, Riggs, E R, Scott, R H, Sisodiya, S, Vooren, S V, Wapner, R J, Wilkie, A O M, Wright, C F, Vulto-van Silfhout, A T, Leeuw, N D, de Vries, B B A, Washingthon, N L, Smith, C L, Westerfield, M, Schofield, P, Ruef, B J, Gkoutos, G V, Haendel, M, Smedley, D, Lewis, S E & Robinson, P N 2013, ' The Human Phenotype Ontology project : linking molecular biology and disease through phenotype data ', Nucleic Acids Research . https://doi.org/10.1093/nar/gkt1026
Nucleic Acids Research, 42, D966-74
Nucleic Acids Research

Contains fulltext : 136954.pdf (Publisher’s version ) (Open Access) The Human Phenotype Ontology (HPO) project, available at http://www.human-phenotype-ontology.org, provides a structured, comprehensive and well-defined set of 10,088 classes (terms

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82a58b2b7869fba53eb819a3aab7f1fc
http://ora.ox.ac.uk/objects/uuid:ac0bd6f1-f810-4426-b214-8ca1285fa516