Search
Results: 244
NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease.
T Schwerd, RV Bryant, S Pandey, M Capitani, L Meran, J-B Cazier, J Jung, K Mondal, M Parkes, CG Mathew, K Fiedler, DJ McCarthy, WGS500 Consortium, Oxford IBD cohort study investigators, COLORS in IBD group investigators, UK IBD Genetics Consortium, PB Sullivan, A Rodrigues, SPL Travis, C Moore, J Sambrook, WH Ouwehand, DJ Roberts, J Danesh, INTERVAL Study, RK Russell, DC Wilson, JR Kelsen, R Cornall, LA Denson, S Kugathasan, UG Knaus, EG Serra, CA Anderson, RH Duerr, D Pb McGovern, J Cho, F Powrie, V Sw Li, AM Muise, HH Uhlig
Feb 05, 2018
Genetic defects that affect intestinal epithelial barrier function can present with very early-onset inflammatory bowel disease (VEOIBD). Using whole-genome sequencing, a novel hemizygous defect in NOX1 encoding NAPDH oxidase 1...
Animals Child Child Preschool Colon Genes Modifier Genetic Association Studies Genetic Predisposition to Disease Genome Genotype High-Throughput Nucleotide Sequencing Host-Pathogen Interactions Humans Inflammatory Bowel Diseases Male Mice Mice Inbred C57BL Mutation Missense NADPH Oxidase 1 Polymorphism Single Nucleotide Reactive Oxygen Species
From bud formation to flowering
Noémie Vimont, Mathieu Fouché, José Antonio Campoy, Meixuezi Tong, Mustapha Arkoun, Jean-Claude Yvin, Philip A Wigge, Elisabeth Dirlewanger, Sandra Cortijo, Bénédicte Wenden
Dec 11, 2020
The genetic landscape of axonal neuropathies in the middle-aged and elderly
Jan Senderek, Petra Lassuthova, Dagmara Kabzińska, Lisa Abreu, Jonathan Baets, Christian Beetz, Geir J Braathen, David Brenner, Joline Dalton, Lois Dankwa, Tine Deconinck, Peter De Jonghe, Bianca Dräger, Katja Eggermann, Melina Ellis, Carina Fischer, Tanya Stojkovic, David N Herrmann, Rita Horvath, Helle Høyer, Stephan Iglseder, Marina Kennerson, Katharina Kinslechner, Jennefer N Kohler, Ingo Kurth, Nigel G Laing, Phillipa J Lamont, Löscher Wolfgang N, Albert Ludolph, Wilson Marques, Garth Nicholson, Royston Ong, Susanne Petri, Gianina Ravenscroft, Adriana Rebelo, Giulia Ricci, Sabine Rudnik-Schöneborn, Anja Schirmacher, Beate Schlotter-Weigel, Ludger Schoels, Rebecca Schüle, Matthis Synofzik, Bruno Francou, Tim M Strom, Johannes Wagner, David Walk, Julia Wanschitz, Daniela Weinmann, Jochen Weishaupt, Manuela Wiessner, Reinhard Windhager, Peter Young, Stephan Züchner, Stefan Toegel, Pavel Seeman, Andrzej Kochański, Michaela Auer-Grumbach
Nov 19, 2020
OBJECTIVE: To test the hypothesis that monogenic neuropathies such as Charcot-Marie-Tooth disease (CMT) contribute to frequent but often unexplained neuropathies in the elderly, we performed genetic analysis of 230 patients with...
Detecting rare copy number variants from Illumina genotyping arrays with the CamCNV pipeline
The intensities from genotyping array data can be used to detect copy number variants (CNVs) but a high level of noise in the data and overlap between different copy-number intensity distributions produces unreliable calls...
Phylogenomics of Mycobacterium africanum reveals a new lineage and a complex evolutionary history.
Mireia Coscolla, Sebastien Gagneux, Fabrizio Menardo, Chloé Loiseau, Paula Ruiz-Rodriguez, Sonia Borrell, Isaac Darko Otchere, Adwoa Asante-Poku, Prince Asare, Leonor Sánchez-Busó, Florian Gehre, C N'Dira Sanoussi, Martin Antonio, Dissou Affolabi, Janet Fyfe, Patrick Beckert, Stefan Niemann, Abraham S Alabi, Martin P Grobusch, Robin Kobbe, Julian Parkhill, Christian Beisel, Lukas Fenner, Erik C Böttger, Conor J Meehan, Simon R Harris, Bouke C de Jong, Dorothy Yeboah-Manu, Daniela Brites
Feb 17, 2021
Human tuberculosis (TB) is caused by members of the Mycobacterium tuberculosis complex (MTBC). The MTBC comprises several human-adapted lineages known as M. tuberculosis sensu stricto, as well as two lineages (L5 and L6)...
Mycobacterium africanum Mycobacterium tuberculosis Diversity evolution Genome Mycobacteria Africa Eastern Africa Western Drug Resistance Bacterial evolution Molecular Genome Bacterial High-Throughput Nucleotide Sequencing Humans Mycobacterium tuberculosis Phylogeny Phylogeography Tuberculosis whole genome sequencing
Exome Sequencing of Uterine Leiomyosarcomas Identifies Frequent Mutations in TP53, ATRX, and MED12.
Netta Mäkinen, Mervi Aavikko, Tuomas Heikkinen, Minna Taipale, Jussi Taipale, Riitta Koivisto-Korander, Ralf Bützow, Pia Vahteristo
Jan 03, 2020
Uterine leiomyosarcomas (ULMSs) are aggressive smooth muscle tumors associated with poor clinical outcome. Despite previous cytogenetic and molecular studies, their molecular background has remained elusive. To examine somatic...
Adaptor Proteins Signal Transducing Aged Aged 80 and over Co-Repressor Proteins DNA Helicases Exome Female Gene Expression Regulation Neoplastic High-Throughput Nucleotide Sequencing Humans Leiomyosarcoma Mediator Complex Middle Aged Molecular Chaperones Mutation Rate Nuclear Proteins Telomere Homeostasis Tumor Suppressor Protein p53 Uterine Neoplasms X-linked Nuclear Protein
Ontology-based prediction of cancer driver genes.
Sara Althubaiti, Andreas Karwath, Ashraf Dallol, Adeeb Noor, Shadi Salem Alkhayyat, Rolina Alwassia, Katsuhiko Mineta, Takashi Gojobori, Andrew D Beggs, Paul N Schofield, Georgios V Gkoutos, Robert Hoehndorf
Nov 27, 2019
Identifying and distinguishing cancer driver genes among thousands of candidate mutations remains a major challenge. Accurate identification of driver genes and driver mutations is critical for advancing cancer research and...
ctDNA monitoring using patient-specific sequencing and integration of variant reads.
Jonathan CM Wan, Katrin Heider, Davina Gale, Suzanne Murphy, Eyal Fisher, Florent Mouliere, Andrea Ruiz-Valdepenas, Angela Santonja, James Morris, Dineika Chandrananda, Andrea Marshall, Andrew B Gill, Pui Ying Chan, Emily Barker, Gemma Young, Wendy N Cooper, Irena Hudecova, Francesco Marass, Richard Mair, Kevin M Brindle, Grant D Stewart, Jean E Abraham, Carlos Caldas, Doris M Rassl, Robert C Rintoul, Constantine Alifrangis, Mark R Middleton, Ferdia A Gallagher, Christine Parkinson, Amer Durrani, Ultan McDermott, Christopher G Smith, Charles Massie, Pippa G Corrie, Nitzan Rosenfeld
Jun 23, 2020
Circulating tumor-derived DNA (ctDNA) can be used to monitor cancer dynamics noninvasively. Detection of ctDNA can be challenging in patients with low-volume or residual disease, where plasma contains very few tumor-derived DNA...
PAGA
F Alexander Wolf, Fiona K Hamey, Mireya Plass, Jordi Solana, Joakim S Dahlin, Berthold Göttgens, Nikolaus Rajewsky, Lukas Simon, Fabian J Theis
Feb 18, 2019
Clonal approaches to understanding the impact of mutations on hematologic disease development.
Interrogation of hematopoietic tissue at the clonal level has a rich history spanning over 50 years, and has provided critical insights into both normal and malignant hematopoiesis. Characterization of chromosomes identified...
Circulating tumor DNA in patients with colorectal adenomas
Ni Ni Moe Myint, Ajay M Verma, Daniel Fernandez-Garcia, Panchali Sarmah, Patrick S Tarpey, Saif Sattar Al-Aqbi, Hong Cai, Ricky Trigg, Kevin West, Lynne M Howells, Anne Thomas, Karen Brown, David S Guttery, Baljit Singh, Howard J Pringle, Ultan McDermott, Jacqui A Shaw, Alessandro Rufini
Nov 22, 2018
Improving early detection of colorectal cancer (CRC) is a key public health priority as adenomas and stage I cancer can be treated with minimally invasive procedures. Population screening strategies based on detection of occult...
Adenoma Adenomatous Polyposis Coli Protein Aged Aged 80 and over Animals Biomarkers Tumor Circulating Tumor DNA Colonic Neoplasms Early Detection of Cancer Female High-Throughput Nucleotide Sequencing Humans Liquid biopsy Male Mice Mice Knockout Middle Aged Polymerase Chain Reaction Proto-Oncogene Proteins B-raf Proto-Oncogene Proteins p21(ras)
Tissue- and sex-specific small RNAomes reveal sex differences in response to the environment.
Alexandra Bezler, Fabian Braukmann, Sean M West, Arthur Duplan, Raffaella Conconi, Frédéric Schütz, Pierre Gönczy, Fabio Piano, Kristin Gunsalus, Eric A Miska, Laurent Keller
Feb 15, 2019
An interactive genome browser of association results from the UK10K cohorts project.
Matthias Geihs, Ying Yan, Klaudia Walter, Jie Huang, Yasin Memari, Josine L Min, Daniel Mead, UK10K consortium, Tim J Hubbard, Nicholas J Timpson, Thomas A Down, Nicole Soranzo
Jun 25, 2018
UNLABELLED: High-throughput sequencing technologies survey genetic variation at genome scale and are increasingly used to study the contribution of rare and low-frequency genetic variants to human traits. As part of the Cohorts...
The use of panel testing in familial breast and ovarian cancer.
Advances in sequencing technology have led to the introduction of panel testing in hereditary breast and ovarian cancer. While direct-to-consumer testing services have become widely available, the clinical validity of many of...
Breast Cancer gene panel genetic testing and hereditary cancer ovarian cancer AMP-Activated Protein Kinase Kinases Antigens CD Cadherins DNA-Binding Proteins Epithelial Cell Adhesion Molecule Female Genes BRCA1 Genes BRCA2 Genetic Predisposition to Disease Genetic Testing Hereditary Breast and Ovarian Cancer Syndrome High-Throughput Nucleotide Sequencing Humans Li-Fraumeni Syndrome Lynch Syndrome II MutL Protein Homolog 1 MutS Homolog 2 Protein PTEN Phosphohydrolase Peutz-Jeghers Syndrome Protein Serine-Threonine Kinases Sequence Analysis DNA Tumor Suppressor Protein p53
TransRate
TransRate is a tool for reference-free quality assessment of de novo transcriptome assemblies. Using only the sequenced reads and the assembly as input, we show that multiple common artifacts of de novo transcriptome assembly...
The Molecular Tumor Board Portal supports clinical decisions and automated reporting for precision oncology.
David Tamborero, Rodrigo Dienstmann, Maan Haj Rachid, Jorrit Boekel, Adria Lopez-Fernandez, Markus Jonsson, Ali Razzak, Irene Braña, Luigi De Petris, Jeffrey Yachnin, Richard D Baird, Yohann Loriot, Christophe Massard, Patricia Martin-Romano, Frans Opdam, Richard F Schlenk, Claudio Vernieri, Michele Masucci, Xenia Villalobos, Elena Chavarria, Cancer Core Europe consortium, Judith Balmaña, Giovanni Apolone, Carlos Caldas, Jonas Bergh, Ingemar Ernberg, Stefan Fröhling, Elena Garralda, Claes Karlsson, Josep Tabernero, Emile Voest, Jordi Rodon, Janne Lehtiö
Feb 28, 2022
There is a growing need for systems that efficiently support the work of medical teams at the precision-oncology point of care. Here, we present the implementation of the Molecular Tumor Board Portal (MTBP), an academic clinical...
Multilocus Inherited Neoplasia Alleles Syndrome
James Whitworth, Anne-Bine Skytte, Lone Sunde, Derek H Lim, Mark J Arends, Lisa Happerfield, Ian M Frayling, Rick van Minkelen, Emma R Woodward, Marc D Tischkowitz, Eamonn R Maher
Mar 23, 2016
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Detelina Grozeva, Keren Carss, Olivera Spasic-Boskovic, Maria-Isabel Tejada, Jozef Gecz, Marie Shaw, Mark Corbett, Eric Haan, Elizabeth Thompson, Kathryn Friend, Zaamin Hussain, Anna Hackett, Michael Field, Alessandra Renieri, Roger Stevenson, Charles Schwartz, James AB Floyd, Jamie Bentham, Catherine Cosgrove, Bernard Keavney, Shoumo Bhattacharya, Italian X-linked Mental Retardation Project, UK10K consortium, GOLD Consortium, Matthew Hurles, F Lucy Raymond
Sep 15, 2015
Mendelian disease developmental delay Intellectual Disability next-generation sequencing Alleles Cohort Studies Computational Biology Female Genetic Association Studies High-Throughput Nucleotide Sequencing Humans Inheritance Patterns Intellectual Disability Male Mutation Polymorphism Single Nucleotide
A survey of best practices for RNA-seq data analysis.
Ana Conesa, Pedro Madrigal, Sonia Tarazona, David Gomez-Cabrero, Alejandra Cervera, Andrew McPherson, Michał Wojciech Szcześniak, Daniel J Gaffney, Laura L Elo, Xuegong Zhang, Ali Mortazavi
Jan 13, 2016
Circulation of reassortant influenza A(H7N9) viruses in poultry and humans, Guangdong Province, China, 2013.
Changwen Ke, Jing Lu, Jie Wu, Dawei Guan, Lirong Zou, Tie Song, Lina Yi, Xianqiao Zeng, Lijun Liang, Hanzhong Ni, Min Kang, Xin Zhang, Haojie Zhong, Jianfeng He, Jinyan Lin, Derek Smith, David Burke, Ron AM Fouchier, Marion Koopmans, Yonghui Zhang
Nov 13, 2014
Adolescent Adult Aged Animals China Environmental Monitoring Female Genome Viral Geography Medical Hemagglutinin Glycoproteins Influenza Virus High-Throughput Nucleotide Sequencing Humans Influenza A virus H7N9 Subtype Influenza in Birds Influenza Human Male Middle Aged Neuraminidase Phylogeny Phylogeography Poultry Public Health Surveillance Reassortant Viruses Viral Proteins Young Adult
Extent, causes, and consequences of small RNA expression variation in human adipose tissue.
Leopold Parts, Åsa K Hedman, Sarah Keildson, Andrew J Knights, Cei Abreu-Goodger, Martijn van de Bunt, José Afonso Guerra-Assunção, Nenad Bartonicek, Stijn van Dongen, Reedik Mägi, James Nisbet, Amy Barrett, Mattias Rantalainen, Alexandra C Nica, Michael A Quail, Kerrin S Small, Daniel Glass, Anton J Enright, John Winn, MuTHER Consortium, Panos Deloukas, Emmanouil T Dermitzakis, Mark I McCarthy, Timothy D Spector, Richard Durbin, Cecilia M Lindgren
Jan 18, 2018
Small RNAs are functional molecules that modulate mRNA transcripts and have been implicated in the aetiology of several common diseases. However, little is known about the extent of their variability within the human population....
Animals Blood Glucose Body Fat Distribution Body Mass Index Fasting Female Gene Expression Regulation genetic variation Genome-Wide Association Study Genotype High-Throughput Nucleotide Sequencing Humans Insulin MicroRNAs Middle Aged Polymorphism Single Nucleotide RNA Messenger RNA Small Nucleolar RNA Small Untranslated Subcutaneous Fat
A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome.
Daniel Z Bar, Martin F Arlt, Joan F Brazier, Wendy E Norris, Susan E Campbell, Peter Chines, Delphine Larrieu, Stephen P Jackson, Francis S Collins, Thomas W Glover, Leslie B Gordon
Feb 07, 2017
|
|< |
< |
1 |