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HGVA
Javier Lopez, Jacobo Coll, Matthias Haimel, Swaathi Kandasamy, Joaquin Tarraga, Pedro Furio-Tari, Wasim Bari, Marta Bleda, Antonio Rueda, Stefan Gräf, Augusto Rendon, Joaquin Dopazo, Ignacio Medina
Aug 18, 2017
High-profile genomic variation projects like the 1000 Genomes project or the Exome Aggregation Consortium, are generating a wealth of human genomic variation knowledge which can be used as an essential reference for identifying...
Whole-genome sequencing of patients with rare diseases in a national health system.
Ernest Turro, William J Astle, Karyn Megy, Stefan Gräf, Daniel Greene, Olga Shamardina, Hana Lango Allen, Alba Sanchis-Juan, Mattia Frontini, Chantal Thys, Jonathan Stephens, Rutendo Mapeta, Oliver S Burren, Kate Downes, Matthias Haimel, Salih Tuna, Sri VV Deevi, Timothy J Aitman, David L Bennett, Paul Calleja, Keren Carss, Mark J Caulfield, Patrick F Chinnery, Peter H Dixon, Daniel P Gale, Roger James, Ania Koziell, Michael A Laffan, Adam P Levine, Eamonn R Maher, Hugh S Markus, Joannella Morales, Nicholas W Morrell, Andrew D Mumford, Elizabeth Ormondroyd, Stuart Rankin, Augusto Rendon, Sylvia Richardson, Irene Roberts, Noemi BA Roy, Moin A Saleem, Kenneth GC Smith, Hannah Stark, Rhea YY Tan, Andreas C Themistocleous, Adrian J Thrasher, Hugh Watkins, Andrew R Webster, Martin R Wilkins, Catherine Williamson, James Whitworth, Sean Humphray, David R Bentley, 000 Genomes Project NIHR BioResource for the 100, Nathalie Kingston, Neil Walker, John R Bradley, Sofie Ashford, Christopher J Penkett, Kathleen Freson, Kathleen E Stirrups, F Lucy Raymond, Willem H Ouwehand
Jul 01, 2020
Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered1. Here we used whole-genome sequencing (WGS) in a...
Actin-Related Protein 2-3 Complex Adaptor Proteins Signal Transducing Alleles Databases Factual Erythrocytes GATA1 Transcription Factor Humans Internationality National Health Programs Phenotype Quantitative Trait Loci Rare Diseases Receptors Thrombopoietin State Medicine United Kingdom whole genome sequencing
Thiopurine monotherapy is effective in ulcerative colitis but significantly less so in Crohn's disease
Evangelos Stournaras, Wendi Qian, Apostolos Pappas, You Yi Hong, Rasha Shawky, UK IBD BioResource Investigators, Tim Raine, Miles Parkes, UK IBD Bioresource Investigators
Jul 20, 2020
OBJECTIVE: Thiopurines are widely used as maintenance therapy in inflammatory bowel disease (IBD) but the evidence base for their use is sparse and their role increasingly questioned. Using the largest series reported to date...
Pan-cancer analysis of whole genomes.
Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale1-3. Here we report the integrative analysis of...
Cell Proliferation Cellular Senescence Chromothripsis Cloud Computing DNA Mutational Analysis evolution Molecular Female Genome Human Genomics Germ-Line Mutation High-Throughput Nucleotide Sequencing Humans Information Dissemination Male Mutagenesis Mutation Neoplasms Oncogenes Promoter Regions Genetic RNA Splicing Reproducibility of Results Telomerase Telomere
Ensuring that COVID-19 research is inclusive
Miles D Witham, Eleanor Anderson, Camille B Carroll, Paul M Dark, Kim Down, Alistair S Hall, Joanna Knee, Eamonn R Maher, Rebecca H Maier, Gail A Mountain, Gary Nestor, John T O'Brien, Laurie Oliva, James Wason, Lynn Rochester, NIHR CRN INCLUDE Steering Group
Oct 23, 2020
OBJECTIVE: To provide guidance to researchers, funders, regulators and study delivery teams to ensure that research on COVID-19 is inclusive, particularly of groups disproportionately affected by COVID-19 and who may have been...
Germline selection shapes human mitochondrial DNA diversity.
Wei Wei, Salih Tuna, Michael J Keogh, Katherine R Smith, Timothy J Aitman, Phil L Beales, David L Bennett, Daniel P Gale, Maria AK Bitner-Glindzicz, Graeme C Black, Paul Brennan, Perry Elliott, Frances A Flinter, R Andres Floto, Henry Houlden, Melita Irving, Ania Koziell, Eamonn R Maher, Hugh S Markus, Nicholas W Morrell, William G Newman, Irene Roberts, John A Sayer, Kenneth GC Smith, Jenny C Taylor, Hugh Watkins, Andrew R Webster, Andrew OM Wilkie, Catherine Williamson, NIHR BioResource–Rare Diseases, 000 Genomes Project–Rare Diseases Pilot 100, Sofie Ashford, Christopher J Penkett, Kathleen E Stirrups, Augusto Rendon, Willem H Ouwehand, John R Bradley, F Lucy Raymond, Mark Caulfield, Ernest Turro, Patrick F Chinnery
Jun 03, 2019
The Gene Ontology's Reference Genome Project
The Gene Ontology (GO) is a collaborative effort that provides structured vocabularies for annotating the molecular function, biological role, and cellular location of gene products in a highly systematic way and in a...
Germline mutations in the transcription factor IKZF5 cause thrombocytopenia.
Claire Lentaigne, Daniel Greene, Suthesh Sivapalaratnam, Remi Favier, Denis Seyres, Chantal Thys, Luigi Grassi, Sarah Mangles, Keith Sibson, Matthew Stubbs, Frances Burden, Jean-Claude Bordet, Corinne Armari-Alla, Wendy Erber, Samantha Farrow, Nicholas Gleadall, Keith Gomez, Karyn Megy, Sofia Papadia, Christopher J Penkett, Matthew C Sims, Luca Stefanucci, Jonathan C Stephens, Randy J Read, Kathleen E Stirrups, Willem H Ouwehand, Michael A Laffan, NIHR BioResource, Mattia Frontini, Kathleen Freson, Ernest Turro
Jan 02, 2020
To identify novel causes of hereditary thrombocytopenia, we performed a genetic association analysis of whole-genome sequencing data from 13 037 individuals enrolled in the National Institute for Health Research (NIHR)...
Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data.
Xiao Chen, Alba Sanchis-Juan, Courtney E French, Andrew J Connell, Isabelle Delon, Zoya Kingsbury, Aditi Chawla, Aaron L Halpern, Ryan J Taft, NIHR BioResource, David R Bentley, Matthew ER Butchbach, F Lucy Raymond, Michael A Eberle
Feb 17, 2021
PURPOSE: Spinal muscular atrophy (SMA), caused by loss of the SMN1 gene, is a leading cause of early childhood death. Due to the near identical sequences of SMN1 and SMN2, analysis of this region is challenging. Population-wide...
Evidence of previous SARS-CoV-2 infection in seronegative patients with long COVID.
Benjamin A Krishna, Eleanor Y Lim, Lenette Mactavous, NIHR BioResource Team, Paul A Lyons, Rainer Doffinger, John R Bradley, Kenneth GC Smith, John Sinclair, Nicholas J Matheson, Paul J Lehner, Mark R Wills, Nyaradzai Sithole
Aug 01, 2022
BACKGROUND: There is currently no consensus on the diagnosis, definition, symptoms, or duration of COVID-19 illness. The diagnostic complexity of Long COVID is compounded in many patients who were or might have been infected...
The incidence of primary glomerulonephritis worldwide
Background. Little is known about the worldwide variation in incidence of primary glomerulonephritis (GN). The objective of this review was to critically appraise studies of incidence published in 1980-2010 so that an overall...
Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases.
The incidence of primary glomerulonephritis worldwide
Background. Little is known about the worldwide variation in incidence of primary glomerulonephritis (GN). The objective of this review was to critically appraise studies of incidence published in 1980-2010 so that an overall...
Earth BioGenome Project
Harris A Lewin, Gene E Robinson, W John Kress, William J Baker, Jonathan Coddington, Keith A Crandall, Richard Durbin, Scott V Edwards, Félix Forest, M Thomas P Gilbert, Melissa M Goldstein, Igor V Grigoriev, Kevin J Hackett, David Haussler, Erich D Jarvis, Warren E Johnson, Aristides Patrinos, Stephen Richards, Juan Carlos Castilla-Rubio, Marie-Anne van Sluys, Pamela S Soltis, Xun Xu, Huanming Yang, Guojie Zhang
Oct 10, 2018
Increasing our understanding of Earth's biodiversity and responsibly stewarding its resources are among the most crucial scientific and social challenges of the new millennium. These challenges require fundamental new knowledge...
The National Institute for Health Research
V Goh, National Institute for Health Research Clinical Research Network Imaging Network Steering Group, Royal College of Radiologists' Academic Committee
Oct 01, 2019
Since the inception of the National Institute for Health Research (NIHR) in 2006, the landscape for the delivery of clinical research within the National Health Service (NHS) has been transformed. Clinical radiology has...
Complete vertebrate mitogenomes reveal widespread repeats and gene duplications.
Giulio Formenti, Arang Rhie, Jennifer Balacco, Bettina Haase, Jacquelyn Mountcastle, Olivier Fedrigo, Samara Brown, Marco Rosario Capodiferro, Farooq O Al-Ajli, Roberto Ambrosini, Peter Houde, Sergey Koren, Karen Oliver, Michelle Smith, Jason Skelton, Emma Betteridge, Jale Dolucan, Craig Corton, Iliana Bista, James Torrance, Alan Tracey, Jonathan Wood, Marcela Uliano-Silva, Kerstin Howe, Shane McCarthy, Sylke Winkler, Woori Kwak, Jonas Korlach, Arkarachai Fungtammasan, Daniel Fordham, Vania Costa, Simon Mayes, Matteo Chiara, David S Horner, Eugene Myers, Richard Durbin, Alessandro Achilli, Edward L Braun, Adam M Phillippy, Erich D Jarvis, Vertebrate Genomes Project Consortium
Jun 18, 2021
BACKGROUND: Modern sequencing technologies should make the assembly of the relatively small mitochondrial genomes an easy undertaking. However, few tools exist that address mitochondrial assembly directly. RESULTS: As part of...
Obesity in Older People With and Without Conditions Associated With Weight Loss
Kirsty Bowman, João Delgado, William E Henley, Jane A Masoli, Katarina Kos, Carol Brayne, Praveen Thokala, Louise Lafortune, George A Kuchel, Alessandro Ble, David Melzer, England As part of the Ageing Well Programme of the NIHR School for Public Health Research
Aug 05, 2020
BACKGROUND: Moderate obesity in later life may improve survival, prompting calls to revise obesity control policies. However, this obesity paradox may be due to confounding from smoking, diseases causing weight-loss, plus...
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project.
Thomas Bourinaris, Damian Smedley, Valentina Cipriani, Isabella Sheikh, Alkyoni Athanasiou-Fragkouli, Patrick Chinnery, Huw Morris, Raquel Real, Victoria Harrison, Evan Reid, Nicholas Wood, Genomics England Research Consortium, Jana Vandrovcova, Henry Houlden, Arianna Tucci
Sep 15, 2021
Hereditary spastic paraplegia (HSP) is a group of heterogeneous inherited degenerative disorders characterized by lower limb spasticity. Fifty percent of HSP patients remain yet genetically undiagnosed. The 100,000 Genomes...
Telomerecat
Telomere length is a risk factor in disease and the dynamics of telomere length are crucial to our understanding of cell replication and vitality. The proliferation of whole genome sequencing represents an unprecedented...
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project
Thomas Bourinaris, Damian Smedley, Valentina Cipriani, Isabella Sheikh, Alkyoni Athanasiou-Fragkouli, Patrick Chinnery, Huw Morris, Raquel Real, Victoria Harrison, Evan Reid, Nicholas Wood, Jana Vandrovcova, Henry Houlden, Arianna Tucci
Dec 01, 2020
Abstract: Hereditary spastic paraplegia (HSP) is a group of heterogeneous inherited degenerative disorders characterized by lower limb spasticity. Fifty percent of HSP patients remain yet genetically undiagnosed. The 100,000...
The Astropy Project
Abstract
The Astropy Project supports and fosters the development of open-source and openly developed Python packages that provide commonly needed...
A Zonca, AM Price-Whelan, PL Lim, N Earl, N Starkman, L Bradley, DL Shupe, AA Patil, L Corrales, CE Brasseur, M Nöthe, A Donath, E Tollerud, BM Morris, A Ginsburg, E Vaher, BA Weaver, J Tocknell, W Jamieson, MH van Kerkwijk, TP Robitaille, B Merry, M Bachetti, HM Günther, C Zhang, TL Aldcroft, JA Alvarado-Montes, AM Archibald, A Bódi, S Bapat, G Barentsen, J Bazán, M Biswas, M Boquien, DJ Burke, D Cara, M Cara, KE Conroy, S Conseil, MW Craig, RM Cross, KL Cruz, F D’Eugenio, N Dencheva, HAR Devillepoix, JP Dietrich, AD Eigenbrot, T Erben, L Ferreira, D Foreman-Mackey, R Fox, N Freij, S Garg, R Geda, L Glattly, Y Gondhalekar, KD Gordon, D Grant, P Greenfield, AM Groener, S Guest, S Gurovich, R Handberg, A Hart, Z Hatfield-Dodds, D Homeier, G Hosseinzadeh, T Jenness, CK Jones, P Joseph, JB Kalmbach, E Karamehmetoglu, M Kałuszyński, MSP Kelley, N Kern, WE Kerzendorf, EW Koch, S Kulumani, A Lee, C Ly, Z Ma, C MacBride, JM Maljaars, D Muna, NA Murphy, H Norman, R O’Steen, KA Oman, C Pacifici, S Pascual, J Pascual-Granado, RR Patil, GI Perren, TE Pickering, T Rastogi, BR Roulston, DF Ryan, ES Rykoff, J Sabater, P Sakurikar
Aug 24, 2022
Publisher Correction: Telomerecat
A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper.
Outcomes of Treated Hypertension at Age 80 and Older
João Delgado, Jane AH Masoli, Kirsty Bowman, W David Strain, George A Kuchel, Kate Walters, Louise Lafortune, Carol Brayne, David Melzer, Alessandro Ble, England As part of the Ageing Well Programme of the NIHR School for Public Health Research
Jun 22, 2018
OBJECTIVES: To estimate outcomes according to attained blood pressure (BP) in the oldest adults treated for hypertension in routine family practice. DESIGN: Cohort analysis of primary care inpatient and death certificate data...
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