Results 51 to 60 of about 1,021,105 (352)

Criteria for reporting incidental findings in clinical exome sequencing : a focus group study on professional practices and perspectives in Belgian genetic centres [PDF]

, 2019
Background: Incidental and secondary findings (IFs and SFs) are subject to ongoing discussion as potential consequences of clinical exome sequencing (ES). International policy documents vary on the reporting of these findings.
De Baere, Elfride, Devisch, Ignaas, Mertes, Heidi, Moerenhout, Tania, Saelaert, Marlies   +4 more
core   +2 more sources

Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation

Nature Communications, 2023
The short lengths of short-read sequencing reads challenge the analysis of paralogous genomic regions in exome and genome sequencing data. Most genetic variants within these homologous regions therefore remain unidentified in standard analyses.
Wouter Steyaert, Lonneke Haer-Wigman, Rolph Pfundt, Debby Hellebrekers, Marloes Steehouwer, Juliet Hampstead, Elke de Boer, Alexander Stegmann, Helger Yntema, Erik-Jan Kamsteeg, Han Brunner, Alexander Hoischen, Christian Gilissen   +12 more
doaj   +1 more source

PHARMACOGENETIC TESTING OPPORTUNITIES IN CARDIOLOGY BASED ON EXOME SEQUENCING

Рациональная фармакотерапия в кардиологии, 2015
Aim. To study what cardiac drugs currently have any comments on biomarkers and what information can be obtained by pharmacogenetic testing using data exome sequencing in patients with cardiac diseases.Material and methods.
N. V. Shcherbakova, A. I. Ershova, A. A. Suvorova, E. Y. Hlebus, A. N. Meshkov, S. A. Boytsov   +5 more
doaj   +3 more sources

Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

Nature Communications, 2020
With the generation of large pan-cancer whole-exome and whole-genome sequencing projects, a question remains about how comparable these datasets are. Here, using The Cancer Genome Atlas samples analysed as part of the Pan-Cancer Analysis of Whole Genomes
Matthew H. Bailey, William U. Meyerson, Lewis Jonathan Dursi, Liang-Bo Wang, Guanlan Dong, Wen-Wei Liang, Amila Weerasinghe, Shantao Li, Yize Li, Sean Kelso, MC3 Working Group, PCAWG novel somatic mutation calling methods working group, Gordon Saksena, Kyle Ellrott, Michael C. Wendl, David A. Wheeler, Gad Getz, Jared T. Simpson, Mark B. Gerstein, Li Ding, PCAWG Consortium   +20 more
doaj   +1 more source

Advancing Human Genetics Research and Drug Discovery through Exome Sequencing of the UK Biobank

medRxiv, 2020
The UK Biobank Exome Sequencing Consortium (UKB-ESC) is a unique private/public partnership between the UK Biobank and eight biopharma companies that will sequence the exomes of all ~500,000 UK Biobank participants.
J. Szustakowski, S. Balasubramanian, A. Sasson, S. Khalid, G. Paola, Bronson, E. Kvikstad, E. Wong, Daren Liu, J. W. Davis, C. Haefliger, A., Katrina Loomis, Rajesh Mikkilineni, H. J. Noh, Samir Wadhawan, X. Bai, Alicia, Hawes, O. Krasheninina, Ricardo Ulloa, Alexander E. Lopez, Erin N. Smith, Jeffrey Waring, C. Whelan, E. Tsai, J. Overton, W. Salerno, H. Jacob, Sandor, Szalma, H. Runz, Gregory Hinkle, P. Nioi, S. Petrovski, Melissa R. Miller, A. Baras, L. Mitnaul, J. Reid   +38 more
semanticscholar   +1 more source

A case report and genetic characterization of a massive acinic cell carcinoma of the parotid with delayed distant metastases. [PDF]

, 2013
We describe the presentation, management, and clinical outcome of a massive acinic cell carcinoma of the parotid gland. The primary tumor and blood underwent exome sequencing which revealed deletions in CDKN2A as well as PPP1R13B, which induces p53.
Agrawal, Sumit K, Barrett, John W, Boutros, Paul C, Chan-Seng-Yue, Michelle, Dowthwaite, Samuel A, Fung, Kevin, Harding, Nicholas J, Koropatnick, James, Lambin, Philippe, Macneil, S Danielle, Mymryk, Joe S, Nichols, Anthony C, Palma, David A, Starmans, Maud HW, Waggott, Daryl, Wehrli, Bret, Winquist, Eric, Yoo, John   +17 more
core   +3 more sources

Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma [PDF]

Endocrinology and Metabolism, 2020
Background Pheochromocytoma and paragangliomas (PPGL) are known as tumors with the highest level of heritability, approximately 30% of all cases. Clinical practice guidelines of PPGL recommend genetic testing for germline variants in all patients.
Soo Hyun Seo, Jung Hee Kim, Man Jin Kim, Sung Im Cho, Su Jin Kim, Hyein Kang, Chan Soo Shin, Sung Sup Park, Kyu Eun Lee, Moon-Woo Seong   +9 more
doaj   +1 more source

Blastic plasmacytoid dendritic cell neoplasm: Genomics mark epigenetic dysregulation as a primary therapeutic target [PDF]

, 2019
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and aggressive hematologic malignancy for which there is still no effective B therapy.
Abate F., Agostinelli C., Amente S., Berti E., Bertolini F., Brundu F., Cerroni L., Dellino G. I., Etebari M., Facchetti F., Falini B., Fuligni F., Indio V., Laginestra M. A., Melle F., Motta G., Orecchioni S., Paulli M., Piccioni R., Pileri A., Pileri S. A., Pimpinelli N., Rabadan R., Rossi M., Sabattini E., Sapienza M. R., Tabanelli V., Talarico G., Tarantino G., Tripodo C., Truni M.   +30 more
core   +2 more sources

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Genome Medicine, 2019
Background Diagnosis of primary immunodeficiencies (PIDs) is complex and cumbersome yet important for the clinical management of the disease. Exome sequencing may provide a genetic diagnosis in a significant number of patients in a single genetic test ...
Peer Arts, Annet Simons, Mofareh S. AlZahrani, Elanur Yilmaz, Eman AlIdrissi, Koen J. van Aerde, Njood Alenezi, Hamza A. AlGhamdi, Hadeel A. AlJubab, Abdulrahman A. Al-Hussaini, Fahad AlManjomi, Alaa B. Alsaad, Badr Alsaleem, Abdulrahman A. Andijani, Ali Asery, Walid Ballourah, Chantal P. Bleeker-Rovers, Marcel van Deuren, Michiel van der Flier, Erica H. Gerkes, Christian Gilissen, Murad K. Habazi, Jayne Y. Hehir-Kwa, Stefanie S. Henriet, Esther P. Hoppenreijs, Sarah Hortillosa, Chantal H. Kerkhofs, Riikka Keski-Filppula, Stefan H. Lelieveld, Khurram Lone, Marius A. MacKenzie, Arjen R. Mensenkamp, Jukka Moilanen, Marcel Nelen, Jaap ten Oever, Judith Potjewijd, Pieter van Paassen, Janneke H. M. Schuurs-Hoeijmakers, Anna Simon, Tomasz Stokowy, Maartje van de Vorst, Maaike Vreeburg, Anja Wagner, Gijs T. J. van Well, Dimitra Zafeiropoulou, Evelien Zonneveld-Huijssoon, Joris A. Veltman, Wendy A. G. van Zelst-Stams, Eissa A. Faqeih, Frank L. van de Veerdonk, Mihai G. Netea, Alexander Hoischen   +51 more
doaj   +1 more source

Rapid, ultra low coverage copy number profiling of cell-free DNA as a precision oncology screening strategy. [PDF]

, 2017
Current cell-free DNA (cfDNA) next generation sequencing (NGS) precision oncology workflows are typically limited to targeted and/or disease-specific applications.
Alva, Ajjai S, Brockman, Scott, Chinnaiyan, Arul M, Chugh, Rashmi, Feng, Felix Y, Grasso, Catherine S, Gursky, Amy, Haakenson, Christine, Henderson, James, Herman, Kirk, Hovelson, Daniel H, Husain, Hatim, Hussain, Maha H, Kamberov, Emmanuel, Kandarpa, Malathi, Kang, Qing, Krauss, John C, Langmore, John, Liu, Chia-Jen, Lonigro, Robert J, Mills, Ryan E, Morgan, Todd M, Quist, Michael J, Ramnath, Nithya, Robinson, Dan, Smith, David C, Talpaz, Moshe, Tesmer, Tim, Tewari, Muneesh, Tomlins, Scott A, Tuck, Missy, Wang, Yugang   +31 more
core   +1 more source