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Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2016, Volume 99, Issue 5, pp. 1005 - 1014
Journal Article
Journal Article
Arthritis Research & Therapy, ISSN 1478-6354, 2015, Volume 17, Issue 1, pp. 288 - 288
INTRODUCTION: The acute gout flare results from a localised self-limiting innate immune response to monosodium urate (MSU) crystals deposited in joints in... 
RHEUMATOID-ARTHRITIS | CARD8 RS2043211 | LUNG-CANCER | URATE | NEW-ZEALAND | CROHNS-DISEASE | POLYMORPHISM | HAPLOTYPE | RHEUMATOLOGY | SOLUBLE CD14 LEVELS | ASSOCIATION | Genetic aspects | Immune response | Single nucleotide polymorphisms | Interleukins | Gout | Atherosclerosis | Index Medicus
Journal Article
Journal Article
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 1 - 14
Journal Article
by French, Courtney E and Delon, Isabelle and Dolling, Helen and Sanchis-Juan, Alba and Shamardina, Olga and Mégy, Karyn and Abbs, Stephen and Austin, Topun and Bowdin, Sarah and Branco, Ricardo G and Firth, Helen and Tuna, Salih and Aitman, Timothy J and Ashford, Sofie and Astle, Willian J and Bennet, David L and Bleda, Marta and Carss, Keren J and Chinnery, Patrick F and Deevi, Sri V. V and Fletcher, Debra and Gale, Daniel P and Gräf, Stefan F and Hu, Fengyuan and James, Roger and Kasanicki, Mary A and Kingston, Nathalie and Koziell, Ania B and Allen, Hana Lango and Maher, Eamonn R and Markus, Hugh S and Meacham, Stuart and Morrell, Nicholas W and Penkett, Christopher J and Roberts, Irene and Smith, Kenneth G. C and Stark, Hannah and Stirrups, Kathleen E and Turro, Ernest and Watkins, Hugh and Williamson, Catherine and Young, Timothy and Bradley, John R and Ouwehand, Willem H and Raymond, F. Lucy and Agrawal, Shruti and Armstrong, Ruth and Beardsall, Kathryn and Belteki, Gusztav and Bohatschek, Marion and Broster, Susan and Campbell, Rosalie and Chaudhary, Rajiv and Costa, Cristine and D’Amore, Angela and Fitzsimmons, Annie and Hague, Jennifer and Harley, Joanne and Hoodbhoy, Shazia and Kayani, Riaz and Kelsall, Wilf and Mehta, Sarju G and O’Donnell, Roddy and O’Hare, Samantha and Ogilvy-Stuart, Amanda and Papakostas, Stergios and Park, Soo-Mi and Parker, Alasdair and Pathan, Nazima and Prapa, Matina and Sammut, Audrienne and Sandford, Richard and Schon, Katherine and Singh, Yogen and Spike, Kelly and Tavares, Ana Lisa Taylor and Wari-Pepple, Doris and Wong, Hilary S and Woods, C. Geoff and Raymond, F. Lucy and Rowitch, David H and Raymond, F. Lucy and NIHR BioResource-Rare Dis and Next Generation Children Project and NIHR BioResource—Rare Disease
Intensive Care Medicine, ISSN 0342-4642, 05/2019, Volume 45, Issue 5, pp. 627 - 636
PurposeWith growing evidence that rare single gene disorders present in the neonatal period, there is a need for rapid, systematic, and comprehensive genomic... 
Genetics | NICU | Critically ill children | Whole genome sequencing | Genomics | PICU | CRITICAL CARE MEDICINE | Genetic disorders | Analysis | Genetic aspects | Nucleotide sequencing | Risk factors | DNA sequencing | Neonates | Phenotypes | Nucleotide sequence | Decision making | Diagnostic software | Decisions | Genomes | Diagnostic systems | Children | Diagnosis | Gene sequencing | Data interpretation | Original
Journal Article
Methods in Molecular Biology, ISSN 1064-3745, 2018, Volume 1708, pp. 349 - 363
Whole genome shotgun bisulfite sequencing is a method used to generate genome-wide methylation profiles. There are many available protocols to validate the... 
MiSeq | Multiplexed targeted sequencing | 48.48 access array | Bisulfite treatment | Microfluidics | Index Medicus
Journal Article
SCIENTIFIC REPORTS, ISSN 2045-2322, 07/2019, Volume 9, Issue 1, pp. 1 - 11
The Viking Health Study Shetland is a population-based research cohort of 2,122 volunteer participants with ancestry from the Shetland Isles in northern... 
STATEMENT | GENETIC-VARIATION | ORIGIN | POLICY | HERG | KVLQT1 | MULTIDISCIPLINARY SCIENCES | CHANNEL MUTATIONS | SPECTRUM | INFERENCE | Haplotypes | Genetic variance | Phenotypes | Pedigree | Long QT syndrome | Population | Population studies | Single-nucleotide polymorphism | Genomes | Gene polymorphism | Chromosomes | Index Medicus
Journal Article