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Peter Donnelly
University of Oxford
314Publications
91H-index
99.7kCitations
Publications 314
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#1Rory Bowden (University of Oxford)H-Index: 29
#2Robert W. Davies (The Centre for Applied Genomics)
Last.Colin Freeman (University of Oxford)H-Index: 21
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Whole-genome sequencing (WGS) is becoming widely used in clinical medicine in diagnostic contexts and to inform treatment choice. Here we evaluate the potential of the Oxford Nanopore Technologies (ONT) MinION long-read sequencer for routine WGS by sequencing the reference sample NA12878 and the genome of an individual with ataxia-pancytopenia syndrome and severe immune dysregulation. We develop and apply a novel reference panel-free analytical method to infer and then exploit phase information ...
#1Alberto Romagnoni ('ENS Paris': École Normale Supérieure)H-Index: 13
Last.Jean-Pierre Hugot (Paris Diderot University)H-Index: 51
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Crohn Disease (CD) is a complex genetic disorder for which more than 140 genes have been identified using genome wide association studies (GWAS). However, the genetic architecture of the trait remains largely unknown. The recent development of machine learning (ML) approaches incited us to apply them to classify healthy and diseased people according to their genomic information. The Immunochip dataset containing 18,227 CD patients and 34,050 healthy controls enrolled and genotyped by the interna...
#1Anjali Gupta Hinch (University of Oxford)H-Index: 3
#2Gang Zhang (University of Oxford)H-Index: 1
Last.Peter Donnelly (University of Oxford)H-Index: 91
view all 8 authors...
INTRODUCTION In diploid organisms, the two chromosomes in each homologous pair act independently of each other during most cellular functions. An exception occurs in meiosis, in which the pair of chromosomes must first locate each other in the cell nucleus and then physically exchange genetic material through recombination and crossing over. This physical exchange is mechanistically essential for proper chromosomal segregation in meiosis. Along with mutation, it also shapes patterns of genetic v...
#1Dorothée Diogo (MSD: Merck & Co.)H-Index: 15
#2Chao TianH-Index: 23
Last.Elina Kilpeläinen (UH: University of Helsinki)H-Index: 2
view all 34 authors...
Phenome-wide association studies (PheWAS) have been proposed as a possible aid in drug development through elucidating mechanisms of action, identifying alternative indications, or predicting adverse drug events (ADEs). Here, we select 25 single nucleotide polymorphisms (SNPs) linked through genome-wide association studies (GWAS) to 19 candidate drug targets for common disease indications. We interrogate these SNPs by PheWAS in four large cohorts with extensive health information (23andMe, UK Bi...
#1Adriana I. Iglesias (EUR: Erasmus University Rotterdam)H-Index: 7
#2Aniket Mishra (University of Bordeaux)H-Index: 10
Last.Colin E. Willoughby (Ulster University)H-Index: 24
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Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. In addition to adding support for known connective tissue-related pathways, pathway analyses uncover previously unreported gene sets. Remarkably, >20% of the CCT-loci are near or within Mendelian disorder genes. These included FBN1, ADAMTS2 and TGFB2 which associate with connecti...
#1Alexander I. Young (University of Oxford)H-Index: 4
#2Fabian L. Wauthier (University of Oxford)H-Index: 6
Last.Peter Donnelly (University of Oxford)H-Index: 91
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Identification of genetic variants with effects on trait variability can provide insights into the biological mechanisms that control variation and can identify potential interactions. We propose a two-degree-of-freedom test for jointly testing mean and variance effects to identify such variants. We implement the test in a linear mixed model, for which we provide an efficient algorithm and software. To focus on biologically interesting settings, we develop a test for dispersion effects, that is,...
#1Jonathan Marchini (University of Oxford)H-Index: 54
#2Clare Bycroft (University of Oxford)H-Index: 3
Last.Peter Donnelly (University of Oxford)H-Index: 91
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The UK Biobank project is a prospective cohort study with deep genetic and phenotypic data collected on approximately 500,000 individuals from across the United Kingdom, aged between 40 and 69 at recruitment. The open resource is unique in its size and scope. A rich variety of phenotypic and health-related information is available on each participant, including biological measurements, lifestyle indicators, biomarkers in blood and urine, and imaging of the body and brain. Follow-up information i...
#1Douglas M. Ruderfer (ISMMS: Icahn School of Medicine at Mount Sinai)H-Index: 43
#2Stephan Ripke (Charité)H-Index: 66
Last.Loes M. Olde Loohuis (Semel Institute for Neuroscience and Human Behavior)H-Index: 13
view all 539 authors...
Schizophrenia and bipolar disorder are two distinct diagnoses that share symptomology. Understanding the genetic factors contributing to the shared and disorder-specific symptoms will be crucial for improving diagnosis and treatment. In genetic data consisting of 53,555 cases (20,129 bipolar disorder [BD], 33,426 schizophrenia [SCZ]) and 54,065 controls, we identified 114 genome-wide significant loci implicating synaptic and neuronal pathways shared between disorders. Comparing SCZ to BD (23,585...
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