Search results for: Mark Daly

Items from 1 to 20 out of 46 results

article

Identification of complement factor H variants that predispose to pre‐eclampsia: A genetic and functional study

A. Inkeri Lokki, Zhen Ren, Michael Triebwasser, Emma Daly, more

BJOG: An International Journal of Obstetrics & Gynaecology > 130 > 12 > 1473 - 1482

Objective The objective of the study was to investigate the role of genetic variants in complement proteins in pre‐eclampsia. Design In a case–control study involving 609 cases and 2092 controls, five rare variants in complement factor H (CFH) were identified in women with severe and complicated pre‐eclampsia. No variants were identified in controls. Setting Pre‐eclampsia is a leading cause of...

article

Making connections: Social identification with new treatment groups for lifestyle management of severe obesity

Sammyh S. Khan, Mark Tarrant, Katarina Kos, Mark Daly, more

Clinical Psychology & Psychotherapy > 27 > 5 > 686 - 696

Groups are regularly used to deliver healthcare services, including the management of obesity, and there is growing evidence that patients' experiences of such groups fundamentally shape treatment effects. This study investigated factors related to patients' shared social identity formed within the context of a treatment group for the management of severe obesity. A cross‐sectional survey was administered...

article

Principles and methods of in-silico prioritization of non-coding regulatory variants

Phil H. Lee, Christian Lee, Xihao Li, Brian Wee, more

Human Genetics > 2018 > 137 > 1 > 15-30

Over a decade of genome-wide association, studies have made great strides toward the detection of genes and genetic mechanisms underlying complex traits. However, the majority of associated loci reside in non-coding regions that are functionally uncharacterized in general. Now, the availability of large-scale tissue and cell type-specific transcriptome and epigenome data enables us to elucidate how...

article

Genetic association of complement receptors to preeclampsia revealed by targeted exomic sequencing

A. Inkeri Lokki, Michael Triebwasser, Emma Daly, Liisa Uotila, more

Molecular Immunology > 2017 > 89 > Complete > 147-148

article

Genetic association of complement receptors to preeclampsia revealed by targeted exomic sequencing

A. Inkeri Lokki, Michael Triebwasser, Emma Daly, Liisa Uotila, more

Placenta > 2017 > 57 > C > 279

article

85. SNP-Based Dissection of PTSD from Large-Scale Genome-Wide Association Studies (GWAS) across Military and Civilian Cohorts

Adam Maihofer, Laramie Duncan, Andrew Ratanatharathorn, Shareefa Davie, more

Biological Psychiatry > 2017 > 81 > 10(S) > S35-S36

article

Patient experiences of a bariatric group programme for managing obesity: A qualitative interview study

Mark Tarrant, Sammyh S. Khan, Claire V. Farrow, Pooja Shah, more

British Journal of Health Psychology > 22 > 1 > 77 - 93

Objectives People with obesity experience a range of physical and psychological ill‐health outcomes. This study examined patients’ experiences of a group‐based programme for the management of morbid obesity delivered within the UK National Health Service. The focus of the study was on the emerging dynamic of the group and patients’ perceptions of its impact on health outcomes. Design A qualitative...

article

PGC3 AIM 6 - Large Scale Wgs of Multiply Affected Pedigrees

Michael Gill, Aiden Corvin, Mark Daly, Patrick Sullivan, more

European Neuropsychopharmacology > 2017 > 27 > S3 > S414-S415

We describe a large scale effort to systematically and comprehensively evaluated a large collection of densely affected pedigrees using WGS and rigorous statistical frameworks.Direct selection influences the genetic architectures so that common variants have very small effects (GRR<1.2). Rare mutations are a sizable reservoir of actionable genetic variation that could be missed by SNP arrays. De...

article

Exploring the motivations of patients with type 2 diabetes to participate in clinical trials: a qualitative analysis

Stephanie Estcourt, Jill Epton, Tom Epton, Bijay Vaidya, more

Research Involvement and Engagement > 2016 > 2 > 1 > 1-13

Plain English Summary Certain patient groups are reluctant to engage with clinical research and consequently findings are not always truly representative of the wider population. With the emphasis on evidence-based clinical practice, clinical research as a core activity for the National Health Service (NHS) and the rising prevalence of diabetes within the United Kingdom (UK) it is important to understand...

article

A Pleiotropic Missense Variant in SLC39A8 Is Associated With Crohn’s Disease and Human Gut Microbiome Composition

Dalin Li, Jean-Paul Achkar, Talin Haritunians, Jonathan P. Jacobs, more

Gastroenterology > 2016 > 151 > 4 > 724-732

Genome-wide association studies have identified 200 inflammatory bowel disease (IBD) loci, but the genetic architecture of Crohn’s disease (CD) and ulcerative colitis remain incompletely defined. Here, we aimed to identify novel associations between IBD and functional genetic variants using the Illumina ExomeChip (San Diego, CA).Genotyping was performed in 10,523 IBD cases and 5726 non-IBD controls...

chapter

Multiple particle trapping and self-organization in the evanescent fields of optical micro- and nanofibres

Viet Giang Truong, Aili Maimaiti, Mark Daly, Sile Nic Chormaic

2016 Progress in Electromagnetic Research Symposium (PIERS) > 740

2016 Progress in Electromagnetic Research Symposium (PIERS)

Evanescent fields in optical micro- and nanofibres (MNF) have been proposed as efficient means for multiple microparticle trapping and prolusion [1, 2]. Here, we demonstrate the propulsion of 3 µm polystyrene particle chains in the evanescent fields of the fundamental and first higher order modes in an MNF system. The power at the waist was estimated to be 25mW in both cases Self-assembly and speed...

article

Exome Sequencing Analysis Reveals Variants in Primary Immunodeficiency Genes in Patients With Very Early Onset Inflammatory Bowel Disease

Judith R. Kelsen, Noor Dawany, Christopher J. Moran, Britt-Sabina Petersen, more

Gastroenterology > 2015 > 149 > 6 > 1415-1424

Very early onset inflammatory bowel disease (VEO-IBD), IBD diagnosed at 5 years of age or younger, frequently presents with a different and more severe phenotype than older-onset IBD. We investigated whether patients with VEO-IBD carry rare or novel variants in genes associated with immunodeficiencies that might contribute to disease development.Patients with VEO-IBD and parents (when available) were...

article

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

Bjarni J. Vilhjálmsson, Jian Yang, Hilary K. Finucane, Alexander Gusev, more

The American Journal of Human Genetics > 2015 > 97 > 4 > 576-592

Polygenic risk scores have shown great promise in predicting complex disease risk and will become more accurate as training sample sizes increase. The standard approach for calculating risk scores involves linkage disequilibrium (LD)-based marker pruning and applying a p value threshold to association statistics, but this discards information and can reduce predictive accuracy. We introduce LDpred,...

article

Genetic Differences in the Immediate Transcriptome Response to Stress Predict Risk-Related Brain Function and Psychiatric Disorders

Janine Arloth, Ryan Bogdan, Peter Weber, Goar Frishman, more

Neuron > 2015 > 86 > 5 > 1189-1202

Depression risk is exacerbated by genetic factors and stress exposure; however, the biological mechanisms through which these factors interact to confer depression risk are poorly understood. One putative biological mechanism implicates variability in the ability of cortisol, released in response to stress, to trigger a cascade of adaptive genomic and non-genomic processes through glucocorticoid receptor...

article

Building Blocks for a Clinical Imaging Informatics Environment

Marc D Kohli, Max Warnock, Mark Daly, Christopher Toland, more

Journal of Digital Imaging > 2014 > 27 > 2 > 174-181

Over the past 20 years, imaging informatics has been driven by the widespread adoption of radiology information and picture archiving and communication and speech recognition systems. These three clinical information systems are commonplace and are intuitive to most radiologists as they replicate familiar paper and film workflow. So what is next? There is a surge of innovation in imaging informatics...

article

What have we learned from six years of GWAS in autoimmune diseases, and what is next?

Xinli Hu, Mark Daly

Current Opinion in Immunology > 2012 > 24 > 5 > 571-575

Genome-wide association studies (GWAS) have discovered hundreds of common genetic variants that predispose humans to autoimmune diseases, opening up unprecedented potential for elucidating the pathways and processes of disease. To understand the role of these variants in susceptibility, we need to derive mechanistic insight by integration of genetic results with other biological data types and also...

article

Identification of renin signaling as a blood pressure modifying mechanism in soluble guanylate cyclase α1-deficient mice

Emmanuel Buys, Michael Raher, Andrew Kirby, Shahid Mohd, more

Nitric Oxide > 2012 > 27 > Supplement > S25-S26

Male mice deficient in the α ₁ subunit of soluble guanylate cyclase, a nitric oxide (NO) receptor, are hypertensive when on a 129S6 (S6) background (sGCα1-/-S6) but not when on a C57BL/6 (B6) background (sGCα1-/-B6), suggesting that hypertension associated with sGCα ₁ -deficiency is modulated by genetic factors. Genetic linkage analyses in 284 male F2 offspring from an sGCα1-/-S6 X...

article

The acquisition and processing of dithered slip‐sweep vibroseis data

Claudio Bagaini, Mark Daly, Ian Moore

Geophysical Prospecting > 60 > 4 > 618 - 639

We introduce the distance‐separated dithered slip‐sweep vibroseis acquisition technique with the objective of maximizing acquisition productivity for land data whilst maintaining the prestack amplitude fidelity required for detailed amplitude analysis. High productivity is achieved through the use of simultaneous sources and the technique is enabled by the large channel count, continuous recording...

article

Integrating Autoimmune Risk Loci with Gene-Expression Data Identifies Specific Pathogenic Immune Cell Subsets

Xinli Hu, Hyun Kim, Eli Stahl, Robert Plenge, more

The American Journal of Human Genetics > 2011 > 89 > 5 > 682

article

Integrating Autoimmune Risk Loci with Gene-Expression Data Identifies Specific Pathogenic Immune Cell Subsets

Xinli Hu, Hyun Kim, Eli Stahl, Robert Plenge, more

The American Journal of Human Genetics > 2011 > 89 > 4 > 496-506

Although genome-wide association studies have implicated many individual loci in complex diseases, identifying the exact causal alleles and the cell types within which they act remains greatly challenging. To ultimately understand disease mechanism, researchers must carefully conceive functional studies in relevant pathogenic cell types to demonstrate the cellular impact of disease-associated genetic...

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INFONA - science communication portal

Search results for: Mark Daly

Identification of complement factor H variants that predispose to pre‐eclampsia: A genetic and functional study

Making connections: Social identification with new treatment groups for lifestyle management of severe obesity

Principles and methods of in-silico prioritization of non-coding regulatory variants

Genetic association of complement receptors to preeclampsia revealed by targeted exomic sequencing

Genetic association of complement receptors to preeclampsia revealed by targeted exomic sequencing

85. SNP-Based Dissection of PTSD from Large-Scale Genome-Wide Association Studies (GWAS) across Military and Civilian Cohorts

Patient experiences of a bariatric group programme for managing obesity: A qualitative interview study

PGC3 AIM 6 - Large Scale Wgs of Multiply Affected Pedigrees

Exploring the motivations of patients with type 2 diabetes to participate in clinical trials: a qualitative analysis

A Pleiotropic Missense Variant in SLC39A8 Is Associated With Crohn’s Disease and Human Gut Microbiome Composition

Multiple particle trapping and self-organization in the evanescent fields of optical micro- and nanofibres

Exome Sequencing Analysis Reveals Variants in Primary Immunodeficiency Genes in Patients With Very Early Onset Inflammatory Bowel Disease

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

Genetic Differences in the Immediate Transcriptome Response to Stress Predict Risk-Related Brain Function and Psychiatric Disorders

Building Blocks for a Clinical Imaging Informatics Environment

What have we learned from six years of GWAS in autoimmune diseases, and what is next?

Identification of renin signaling as a blood pressure modifying mechanism in soluble guanylate cyclase α1-deficient mice

The acquisition and processing of dithered slip‐sweep vibroseis data

Integrating Autoimmune Risk Loci with Gene-Expression Data Identifies Specific Pathogenic Immune Cell Subsets

Integrating Autoimmune Risk Loci with Gene-Expression Data Identifies Specific Pathogenic Immune Cell Subsets

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