Mark I. McCarthy
National Institute for Health Research
Publications 1010
Published on Dec 1, 2019in Scientific Reports4.01
Alberto Romagnoni13
Estimated H-index: 13
('ENS Paris': École Normale Supérieure),
Simon Jégou + 2 AuthorsJean-Pierre Hugot51
Estimated H-index: 51
(Paris Diderot University)
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...
Published on Dec 1, 2019in Nature Communications11.88
Xinmin Liu16
Estimated H-index: 16
(SSI: Statens Serum Institut),
Dorte Helenius2
Estimated H-index: 2
+ 71 AuthorsFrederick T.J. Lin1
Estimated H-index: 1
(NU: Northwestern University)
The duration of pregnancy is influenced by fetal and maternal genetic and non-genetic factors. Here we report a fetal genome-wide association meta-analysis of gestational duration, and early preterm, preterm, and postterm birth in 84,689 infants. One locus on chromosome 2q13 is associated with gestational duration; the association is replicated in 9,291 additional infants (combined P = 3.96 × 10−14). Analysis of 15,588 mother-child pairs shows that the association is driven by fetal rather than ...
Published on 2019in Endocrine Reviews15.17
Miriam S. Udler9
Estimated H-index: 9
Mark I. McCarthy150
Estimated H-index: 150
(University of Oxford)
+ 1 AuthorsAnubha Mahajan43
Estimated H-index: 43
(University of Oxford)
Published on Dec 1, 2019in Genome Medicine10.89
Juan Fernandez-Tajes (University of Oxford), Kyle J. Gaulton25
Estimated H-index: 25
(UCSD: University of California, San Diego)
+ 6 AuthorsMark I. McCarthy150
Estimated H-index: 150
(University of Oxford)
Background Genome-wide association studies (GWAS) have identified several hundred susceptibility loci for type 2 diabetes (T2D). One critical, but unresolved, issue concerns the extent to which the mechanisms through which these diverse signals influencing T2D predisposition converge on a limited set of biological processes. However, the causal variants identified by GWAS mostly fall into a non-coding sequence, complicating the task of defining the effector transcripts through which they operate...
Published on Mar 14, 2019in Nature Communications11.88
Fiona Allum4
Estimated H-index: 4
(McGill University),
Åsa K. Hedman23
Estimated H-index: 23
(KI: Karolinska Institutet)
+ 17 AuthorsC Moura (McGill University)
Sparse profiling of CpG methylation in blood by microarrays has identified epigenetic links to common diseases. Here we apply methylC-capture sequencing (MCC-Seq) in a clinical population of ~200 adipose tissue and matched blood samples (Ntotal~400), providing high-resolution methylation profiling (>1.3 M CpGs) at regulatory elements. We link methylation to cardiometabolic risk through associations to circulating plasma lipid levels and identify lipid-associated CpGs with unique localization pat...
Published on Sep 19, 2019in bioRxiv
A. Ndungu (Genentech), Anthony J. Payne3
Estimated H-index: 3
+ 2 AuthorsMark I. McCarthy150
Estimated H-index: 150
There is particular interest in transcriptome-wide association studies (TWAS) - gene-level tests based on multi-SNP predictive models of gene expression - for identifying causal genes at loci associated with complex traits. However, interpretation of TWAS associations may be complicated by divergent effects of model SNPs on trait phenotype and gene expression. We developed an iterative modelling scheme for obtaining multi-SNP models of gene expression and applied this framework to generate expre...
Published on Sep 8, 2019in bioRxiv
A. Wesolowska-Andersen (Genentech), G. Zhuo Yu + 6 AuthorsMark I. McCarthy150
Estimated H-index: 150
Genome-wide association analyses have uncovered multiple genomic regions associated with T2D, but identification of the causal variants at these remains a challenge. There is growing interest in the potential of deep learning models - which predict epigenome features from DNA sequence - to support inference concerning the regulatory effects of disease-associated variants. Here, we evaluate the advantages of training convolutional neural network (CNN) models on a broad set of epigenomic features ...
Published on Jun 15, 2019in Diabetologia7.11
Robert W. Koivula8
Estimated H-index: 8
(Lund University),
Ian Forgie1
Estimated H-index: 1
(Dund.: University of Dundee)
+ 47 AuthorsFemke Rutters12
Estimated H-index: 12
(VUmc: VU University Medical Center)
Aims/hypothesis Here, we describe the characteristics of the Innovative Medicines Initiative (IMI) Diabetes Research on Patient Stratification (DIRECT) epidemiological cohorts at baseline and follow-up examinations (18, 36 and 48 months of follow-up).
Published on Jun 1, 2019in Journal of Hepatology18.95
H.R. Wilman1
Estimated H-index: 1
(University of Westminster),
Constantinos Parisinos2
Estimated H-index: 2
(UCL: University College London)
+ 11 AuthorsHarry Hemingway56
Estimated H-index: 56
(UCL: University College London)
Abstract Background & Aims Excess liver iron content is common and is linked to hepatic and extrahepatic disease risk. We aimed to identify genetic variants influencing liver iron content and use genetics to understand its link to other traits and diseases. Methods First, we performed a genome-wide association study (GWAS) in 8,289 individuals in UK Biobank with MRI quantified liver iron, and validated our findings in an independent cohort (n=1,513 from IMI DIRECT). Second, we used Mendelian ran...