Results 31 to 40 of about 125,953 (296)

Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy

Molecular Genetics & Genomic Medicine, 2021
Background Hypertrophic cardiomyopathy (HCM), described as the presence of hypertrophy of left ventricular, is the most prevalent heritable cardiovascular disease with predominantly an autosomal dominant type of inheritance.
Elena V. Filatova, Natalia S. Krylova, Ivan N. Vlasov, Maria S. Maslova, Natalia G. Poteshkina, Petr A. Slominsky, Maria I. Shadrina   +6 more
doaj   +1 more source

Wessim: a whole-exome sequencing simulator based on in silico exome capture [PDF]

Bioinformatics, 2013
Abstract Summary: We propose a targeted re-sequencing simulator Wessim that generates synthetic exome sequencing reads from a given sample genome. Wessim emulates conventional exome capture technologies, including Agilent’s SureSelect and NimbleGen’s SeqCap, to generate DNA fragments from genomic target regions. The target regions can be
Kyowon Jeong, Sangwoo Kim, Vineet Bafna
openaire   +4 more sources

Actionable Exomic Secondary Findings in 280 Lebanese Participants

Frontiers in Genetics, 2020
The expanded use of NGS tests in genetic diagnosis enables the massive generation of data related to each individual, among which some findings are of medical value. Over the last three and a half years, 280 unrelated Lebanese patients, presenting a wide
Nadine Jalkh, Cybel Mehawej, Eliane Chouery   +2 more
doaj   +1 more source

Whole Exome Sequencing

Rinsho Shinkeigaku, 2010
Over the years there have been many different approaches and techniques that have been utilized to gather genetic information on family and patient data. Early on these focused on using family information and the pattern of inheritance of the disease in the family.
Jeffery M. Vance, Karen Nuytemans
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High-Throughput Sequencing to Detect Novel Likely Gene-Disrupting Variants in Pathogenesis of Sporadic Brain Arteriovenous Malformations

Frontiers in Genetics, 2020
Molecular signaling that leads to brain arteriovenous malformation (bAVM) is to date elusive and this is firstly due to the low frequency of familial cases.
Concetta Scimone, Concetta Scimone, Luigi Donato, Luigi Donato, Concetta Alafaci, Francesca Granata, Carmela Rinaldi, Marcello Longo, Rosalia D’Angelo, Rosalia D’Angelo, Antonina Sidoti, Antonina Sidoti   +11 more
doaj   +1 more source

Assessing the Power of Exome Chips

PLOS ONE, 2015
Genotyping chips for rare and low-frequent variants have recently gained popularity with the introduction of exome chips, but the utility of these chips remains unclear. These chips were designed using exome sequencing data from mainly American-European individuals, enriched for a narrow set of common diseases.
Bjørn-Helge Mevik, Hanne F. Harbo, Hanne F. Harbo, Sergio E. Baranzini, Christian M. Page, Christian M. Page, Steffan D. Bos, Steffan D. Bos, Bettina Kulle Andreassen   +8 more
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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing [PDF]

Human Genomics, 2023
Abstract 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).
Yaldiz, Burcu, Kucuk, Erdi, Hampstead, Juliet, Hofste, Tom, Pfundt, Rolph, Corominas Galbany, Jordi, Rinne, Tuula, Yntema, Helger G., Hoischen, Alexander, Nelen, Marcel, Gilissen, Christian, 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, Rooryck, Caroline, Renieri, Alessandra, Fallerini, Chiara, Benetti, Elisa, Johari, Mridul, Ratnaike, Thiloka, Hemelsoet, Dimitri, Mei, Davide, Balestrini, Simona, Guerrini, Renzo, Zara, Federico, Scala, Marcello, Sznajer, Yves, May, Patrick   +213 more
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The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results [PDF]

Genetics in Medicine, 2017
Evaluation of the clinician's role in the optimal interpretation of clinical exome sequencing (ES) results.Retrospective chart review of the first 155 patients who underwent clinical ES in our Exome Clinic and direct interaction with the ordering geneticist to evaluate the process of interpretation of results.The most common primary indication was ...
Charles W. Goss, Marisa Vineyard, Sarah K. Brown, Dustin Baldridge, Linda Manwaring, Beth A. Kozel, Beth A. Kozel, Marwan Shinawi, Jennifer Heeley, Jennifer Heeley, Dorothy K. Grange, Marcia C. Willing, Tomi L. Toler, Emily Fassi, Elise Fiala   +14 more
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Implications of Genomic Newborn Screening for Infant Mortality

International Journal of Neonatal Screening, 2023
Technological advances and decreasing costs of genomic sequencing have paved the way for the increased incorporation of genomics into newborn screening (NBS).
Monica H. Wojcik, Nina B. Gold
doaj   +1 more source

Bi-allelic mutations in PRUNE lead to neurodegeneration with spinal motor neuron involvement and hyperCKaemia

The Turkish Journal of Pediatrics, 2019
We aimed to systematically investigate the neuromuscular involvement of individuals with PRUNE mutations who may have a major spinal motor neuron involvement as part of the PRUNE-associated neurodegenerative phenotype.
Derya Okur, Hülya Sevcan Daimagüler, Ayça Ersen Danyeli, Hasan Tekgül, Haicui Wang, Gilbert Wunderlich, Sebahattin Çırak, Uluç Yiş   +7 more
doaj   +1 more source