Search Results - "Vooren, Steven"

DECIPHER : Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources by FIRTH, Helen V, RICHARDS, Shola M, BEVAN, A. Paul, CLAYTON, Stephen, CORPAS, Manuel, RAJAN, Diana, VAN VOOREN, Steven, MOREAU, Yves, PETTETT, Roger M, CARTER, Nigel P

“…Many patients suffering from developmental disorders harbor submicroscopic deletions or duplications that, by affecting the copy number of dosage-sensitive…”
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Critical points for an accurate human genome analysis by White, Stefan J., Laros, Jeroen F.J., Bakker, Egbert, Cambon‐Thomsen, Anne, Eden, Martin, Leonard, Samantha, Lochmüller, Hanns, Matthijs, Gert, Mattocks, Christopher, Patton, Simon, Payne, Katherine, Scheffer, Hans, Souche, Erica, Thomassen, Ellen, Thompson, Rachel, Traeger‐Synodinos, Jan, Vooren, Steven, Janssen, Bart, den Dunnen, Johan T.

“…Next‐generation sequencing is radically changing how DNA diagnostic laboratories operate. What started as a single‐gene profession is now developing into gene…”
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Endeavour update: a web resource for gene prioritization in multiple species by Tranchevent, Léon-Charles, Barriot, Roland, Yu, Shi, Van Vooren, Steven, Van Loo, Peter, Coessens, Bert, De Moor, Bart, Aerts, Stein, Moreau, Yves

“…Endeavour (http://www.esat.kuleuven.be/endeavourweb; this web site is free and open to all users and there is no login requirement) is a web resource for the…”
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Autosomal-Dominant Microtia Linked to Five Tandem Copies of a Copy-Number-Variable Region at Chromosome 4p16 by Balikova, Irina, Martens, Kevin, Melotte, Cindy, Amyere, Mustapha, Van Vooren, Steven, Moreau, Yves, Vetrie, David, Fiegler, Heike, Carter, Nigel P., Liehr, Thomas, Vikkula, Miikka, Matthijs, Gert, Fryns, Jean-Pierre, Casteels, Ingele, Devriendt, Koen, Vermeesch, Joris Robert

“…Recently, large-scale benign copy-number variations (CNVs)—encompassing over 12% of the genome and containing genes considered to be dosage tolerant for human…”
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arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays by Menten, Björn, Pattyn, Filip, De Preter, Katleen, Robbrecht, Piet, Michels, Evi, Buysse, Karen, Mortier, Geert, De Paepe, Anne, van Vooren, Steven, Vermeesch, Joris, Moreau, Yves, De Moor, Bart, Vermeulen, Stefan, Speleman, Frank, Vandesompele, Jo

“…The availability of the human genome sequence as well as the large number of physically accessible oligonucleotides, cDNA, and BAC clones across the entire…”
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An experimental loop design for the detection of constitutional chromosomal aberrations by array CGH by Allemeersch, Joke, Van Vooren, Steven, Hannes, Femke, De Moor, Bart, Vermeesch, Joris Robert, Moreau, Yves

“…Comparative genomic hybridization microarrays for the detection of constitutional chromosomal aberrations is the application of microarray technology coming…”
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Comparison of vocabularies, representations and ranking algorithms for gene prioritization by text mining by Yu, Shi, Van Vooren, Steven, Tranchevent, Leon-Charles, De Moor, Bart, Moreau, Yves

“…Motivation: Computational gene prioritization methods are useful to help identify susceptibility genes potentially being involved in genetic disease. Recently,…”
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Reliable and Scalable SARS-CoV-2 qPCR Testing at a High Sample Throughput: Lessons Learned from the Belgian Initiative by Van Vooren, Steven, Grayson, James, Van Ranst, Marc, Dequeker, Elisabeth, Laenen, Lies, Janssen, Reile, Gillet, Laurent, Bureau, Fabrice, Coppieters, Wouter, Devos, Nathalie, Hengchen, Benjamin, Wattiau, Pierre, Méhauden, Sibylle, Verlinden, Yvan, Van Baelen, Kurt, Pattery, Theresa, Valentin, Jean-Pierre, Janssen, Kris, Geraerts, Martine, Smeraglia, John, Hellemans, Jan, Wytynck, Pieter, Mestdagh, Pieter, Besbrugge, Nienke, Höfer, René, Nollet, Friedel, Vandesompele, Jo, De Smet, Pieter, Lebon, John, Vandewynckele, Emmanuel, Verstrepen, Steven, Uten, Wouter, Capron, Arnaud, Malonne, Hugues, Poels, Jeroen, André, Emmanuel

“…We present our approach to rapidly establishing a standardized, multi-site, nation-wide COVID-19 screening program in Belgium. Under auspices of a federal…”
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Mapping biomedical concepts onto the human genome by mining literature on chromosomal aberrations by Van Vooren, Steven, Thienpont, Bernard, Menten, Björn, Speleman, Frank, Moor, Bart De, Vermeesch, Joris, Moreau, Yves

“…Biomedical literature provides a rich but unstructured source of associations between chromosomal regions and biomedical concepts. By mining MEDLINE abstracts,…”
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The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data by Köhler, Sebastian, Doelken, Sandra C, Mungall, Christopher J, Bauer, Sebastian, Firth, Helen V, Bailleul-Forestier, Isabelle, Black, Graeme C M, Brown, Danielle L, Brudno, Michael, Campbell, Jennifer, FitzPatrick, David R, Eppig, Janan T, Jackson, Andrew P, Freson, Kathleen, Girdea, Marta, Helbig, Ingo, Hurst, Jane A, Jähn, Johanna, Jackson, Laird G, Kelly, Anne M, Ledbetter, David H, Mansour, Sahar, Martin, Christa L, Moss, Celia, Mumford, Andrew, Ouwehand, Willem H, Park, Soo-Mi, Riggs, Erin Rooney, Scott, Richard H, Sisodiya, Sanjay, Van Vooren, Steven, Wapner, Ronald J, Wilkie, Andrew O M, Wright, Caroline F, Vulto-van Silfhout, Anneke T, de Leeuw, Nicole, de Vries, Bert B A, Washingthon, Nicole L, Smith, Cynthia L, Westerfield, Monte, Schofield, Paul, Ruef, Barbara J, Gkoutos, Georgios V, Haendel, Melissa, Smedley, Damian, Lewis, Suzanna E, Robinson, Peter N

“…The Human Phenotype Ontology (HPO) project, available at http://www.human-phenotype-ontology.org, provides a structured, comprehensive and well-defined set of…”
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Development, Validation, and Implementation of an Augmented Multiwell, Multitarget Quantitative PCR for the Analysis of Human Papillomavirus Genotyping through Software Automation, Data Science, and Artificial Intelligence by Pereira, A. Rita, Redzic, Nina, Van Vooren, Steven, Pelak, Kimberly, Broekmans, An, Desloovere, Guus, Vanden Broeck, Davy, Kehoe, Kaat, Bogers, Johannes, Coppens, Astrid, Vreysen, Samme, Mailleux, Jo, Uten, Wouter

“…The value of human papillomavirus (HPV) testing for cervical cancer screening is well established; however, its use as a primary screening option or as a…”
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Phenotypic information in genomic variant databases enhances clinical care and research: The international standards for cytogenomic arrays consortium experience by Riggs, Erin Rooney, Jackson, Laird, Miller, David T., Van Vooren, Steven

“…Whole‐genome analysis, now including whole‐genome sequencing, is moving rapidly into the clinical setting, leading to detection of human variation on a broader…”
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Somatic Tumor Variant Filtration Strategies to Optimize Tumor-Only Molecular Profiling Using Targeted Next-Generation Sequencing Panels by Sukhai, Mahadeo A., Misyura, Maksym, Thomas, Mariam, Garg, Swati, Zhang, Tong, Stickle, Natalie, Virtanen, Carl, Bedard, Philippe L., Siu, Lillian L., Smets, Tina, Thijs, Gert, Van Vooren, Steven, Kamel-Reid, Suzanne, Stockley, Tracy L.

“…A common approach in clinical diagnostic laboratories to variant assessment from tumor molecular profiling is sequencing of genomic DNA extracted from both…”
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Diagnostic interpretation of array data using public databases and internet sources by de Leeuw, Nicole, Dijkhuizen, Trijnie, Hehir-Kwa, Jayne Y., Carter, Nigel P., Feuk, Lars, Firth, Helen V., Kuhn, Robert M., Ledbetter, David H., Martin, Christa Lese, van Ravenswaaij-Arts, Conny M. A., Scherer, Steven W., Shams, Soheil, Van Vooren, Steven, Sijmons, Rolf, Swertz, Morris, Hastings, Ros

“…The range of commercially available array platforms and analysis software packages is expanding and their utility is improving, making reliable detection of…”
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A novel genomic disorder : a deletion of the SACS gene leading to Spastic Ataxia of Charlevoix-Saguenay by BRECKPOT, Jeroen, TAKIYAMA, Yoshihisa, THIENPONT, Bernard, VAN VOOREN, Steven, VERMEESCH, Joris Robert, ORTIBUS, Els, DEVRIENDT, Koenraad

“…We report a Belgian patient with early-onset cerebellar ataxia, progressive spasticity, learning difficulties and moderate perceptive hearing loss…”
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A Framework for Elucidating Regulatory Networks Based on Prior Information and Expression Data by GEVAERT, OLIVIER, VAN VOOREN, STEVEN, DE MOOR, BART

“…:  Elucidating regulatory networks is an intensively studied topic in bioinformatics. Integration of different sources of information could facilitate this…”
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Phenotypic Information in Genomic Variant Databases Enhances Clinical Care and Research: The ISCA Consortium Experience by Riggs, Erin Rooney, Jackson, Laird, Miller, David T., Van Vooren, Steven

“…Whole genome analysis, now including whole genome sequencing, is moving rapidly into the clinical setting, leading to detection of human variation on a broader…”
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An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations by Vulto-van Silfhout, Anneke T, van Ravenswaaij, Conny M.A, Hehir-Kwa, Jayne Y, Verwiel, Eugène T.P, Dirks, Rita, van Vooren, Steven, Schinzel, Albert, de Vries, Bert B.A, de Leeuw, Nicole

“…Abstract The European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA, www.ecaruca.net ) is an online database initiated in…”
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TXTGate: profiling gene groups with text-based information by Glenisson, Patrick, Coessens, Bert, Van Vooren, Steven, Mathys, Janick, Moreau, Yves, De Moor, Bart

“…We implemented a framework called TXTGate that combines literature indices of selected public biological resources in a flexible text-mining system designed…”
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Text-mining assisted regulatory annotation by Aerts, Stein, Haeussler, Maximilian, van Vooren, Steven, Griffith, Obi L, Hulpiau, Paco, Jones, Steven J M, Montgomery, Stephen B, Bergman, Casey M

“…Decoding transcriptional regulatory networks and the genomic cis-regulatory logic implemented in their control nodes is a fundamental challenge in genome…”
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