User profiles for C. O Dushlaine
Colm O'DushlaineHead of Statistical Genetics, insitro Verified email at insitro.com Cited by 37014 |
Common polygenic variation contributes to risk of schizophrenia and bipolar disorder
… Peter M. 5 O'Donovan Michael C. 6 Sullivan Patrick F … - Nature, 2009 - nature.com
Schizophrenia is a severe mental disorder with a lifetime risk of about 1%, characterized by
hallucinations, delusions and cognitive deficits, with heritability estimated at up to 80% 1 , 2 . …
hallucinations, delusions and cognitive deficits, with heritability estimated at up to 80% 1 , 2 . …
A polygenic burden of rare disruptive mutations in schizophrenia
Schizophrenia is a common disease with a complex aetiology, probably involving multiple
and heterogeneous genetic factors. Here, by analysing the exome sequences of 2,536 …
and heterogeneous genetic factors. Here, by analysing the exome sequences of 2,536 …
Genome-wide association analysis identifies 13 new risk loci for schizophrenia
S Ripke, C O'dushlaine, K Chambert, JL Moran… - Nature …, 2013 - nature.com
Schizophrenia is an idiopathic mental disorder with a heritable component and a substantial
public health impact. We conducted a multi-stage genome-wide association study (GWAS) …
public health impact. We conducted a multi-stage genome-wide association study (GWAS) …
[HTML][HTML] Computationally efficient whole-genome regression for quantitative and binary traits
Genome-wide association analysis of cohorts with thousands of phenotypes is computationally
expensive, particularly when accounting for sample relatedness or population structure. …
expensive, particularly when accounting for sample relatedness or population structure. …
[HTML][HTML] Genetic and pharmacologic inactivation of ANGPTL3 and cardiovascular disease
…, C O'Dushlaine, C Schurmann… - … England Journal of …, 2017 - Mass Medical Soc
Background Loss-of-function variants in the angiopoietin-like 3 gene (ANGPTL3) have been
associated with decreased plasma levels of triglycerides, low-density lipoprotein (LDL) …
associated with decreased plasma levels of triglycerides, low-density lipoprotein (LDL) …
[HTML][HTML] A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease
…, MD Still, S McCarthy, C O'Dushlaine… - … England Journal of …, 2018 - Mass Medical Soc
Background Elucidation of the genetic factors underlying chronic liver disease may reveal
new therapeutic targets. Methods We used exome sequence data and electronic health …
new therapeutic targets. Methods We used exome sequence data and electronic health …
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study
… with HDL-C levels in African Americans (41, 42). Our results provide further evidence of a
role for CD36 in the modulation of HDL-C levels in individuals of European ancestry. …
role for CD36 in the modulation of HDL-C levels in individuals of European ancestry. …
Biobank-driven genomic discovery yields new insight into atrial fibrillation biology
To identify genetic variation underlying atrial fibrillation, the most common cardiac arrhythmia,
we performed a genome-wide association study of >1,000,000 people, including 60,620 …
we performed a genome-wide association study of >1,000,000 people, including 60,620 …
[HTML][HTML] Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease
…, C O'Dushlaine, O Gottesman… - … England Journal of …, 2016 - Mass Medical Soc
Background Higher-than-normal levels of circulating triglycerides are a risk factor for ischemic
cardiovascular disease. Activation of lipoprotein lipase, an enzyme that is inhibited by …
cardiovascular disease. Activation of lipoprotein lipase, an enzyme that is inhibited by …
[HTML][HTML] Exome sequencing and characterization of 49,960 individuals in the UK Biobank
…, C O'Dushlaine, A Marcketta, J Staples, C Schurmann… - Nature, 2020 - nature.com
The UK Biobank is a prospective study of 502,543 individuals, combining extensive phenotypic
and genotypic data with streamlined access for researchers around the world 1 . Here …
and genotypic data with streamlined access for researchers around the world 1 . Here …