List of works - Shaun Purcell

PLINK: a tool set for whole-genome association and population-based linkage analyses

scientific article

Analysis of protein-coding genetic variation in 60,706 humans

scientific article (publication date: 17 August 2016)

A second generation human haplotype map of over 3.1 million SNPs

scientific article

Genome-wide detection and characterization of positive selection in human populations

scientific article

Hundreds of variants clustered in genomic loci and biological pathways affect human height

scientific article

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

scientific article

Synaptic, transcriptional and chromatin genes disrupted in autism

scientific article

Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study

scientific article (publication date: 11 August 2012)

De novo mutations in schizophrenia implicate synaptic networks

scientific article

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

scientific article published in October 2013

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

scientific article

Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder

scientific article

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

scientific article published on 07 September 2008

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

scientific article

A framework for the interpretation of de novo mutation in human disease

scientific article (publication date: 3 August 2014)

Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression

scientific article published on 26 April 2018

Testing for an unusual distribution of rare variants

scientific article

Two independent alleles at 6q23 associated with risk of rheumatoid arthritis

scientific article

The genetic architecture of type 2 diabetes

scientific article (publication date: 11 July 2016)

Gene ontology analysis of GWA study data sets provides insights into the biology of bipolar disorder

scientific article

Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration

scientific article

Exome sequencing and the genetic basis of complex traits

scientific article published on 29 May 2012

Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4

scientific article

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

scientific article

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

scientific article

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

scientific article

Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene

scientific article

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders

scientific article published on January 2013

Genome-wide association study identifies 30 loci associated with bipolar disorder.

scientific article

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.

scientific article

Extremely low-coverage sequencing and imputation increases power for genome-wide association studies

scientific article published on 20 May 2012

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

scientific journal article

Cross-disorder genomewide analysis of schizophrenia, bipolar disorder, and depression

scientific journal article

The genome-wide patterns of variation expose significant substructure in a founder population

scientific article (publication date: December 2008)

A role for noncoding variation in schizophrenia

scientific article

A genome-wide association study of depressive symptoms

scientific journal article

Genome-wide association study of suicide attempts in mood disorder patients

scientific article

Pharmacogenetic analysis of genes implicated in rodent models of antidepressant response: association of TREK1 and treatment resistance in the STAR(*)D study

scientific article

Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities

scientific article

The Promises and Pitfalls of Genoeconomics

scientific article

The genetic structure of the Swedish population

scientific article published in 2011

De novo CNVs in bipolar affective disorder and schizophrenia

scientific article

Family-based association study of lithium-related and other candidate genes in bipolar disorder

scientific article

Implication of a rare deletion at distal 16p11.2 in schizophrenia

scientific article published on March 2013

Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

scientific article published on 03 October 2016

Multivariate genomewide linkage scan of neurocognitive traits and ADHD symptoms: suggestive linkage to 3q13.

scientific article

Evaluation of an approximation method for assessment of overall significance of multiple-dependent tests in a genomewide association study

scientific article published on 17 October 2011

Dysbindin (DTNBP1) and the Biogenesis of Lysosome-Related Organelles Complex 1 (BLOC-1): Main and Epistatic Gene Effects Are Potential Contributors to Schizophrenia Susceptibility

article

An Analysis of Two Genome-wide Association Meta-analyses Identifies a New Locus for Broad Depression Phenotype

scientific article published on 8 December 2016

New data and an old puzzle: the negative association between schizophrenia and rheumatoid arthritis

scientific article

List of works by Shaun Purcell

PLINK: a tool set for whole-genome association and population-based linkage analyses

Analysis of protein-coding genetic variation in 60,706 humans

A second generation human haplotype map of over 3.1 million SNPs

Genome-wide detection and characterization of positive selection in human populations

Hundreds of variants clustered in genomic loci and biological pathways affect human height

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

Synaptic, transcriptional and chromatin genes disrupted in autism

Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study

De novo mutations in schizophrenia implicate synaptic networks

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

A framework for the interpretation of de novo mutation in human disease

Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression

Testing for an unusual distribution of rare variants

Two independent alleles at 6q23 associated with risk of rheumatoid arthritis

The genetic architecture of type 2 diabetes

Gene ontology analysis of GWA study data sets provides insights into the biology of bipolar disorder

Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration

Exome sequencing and the genetic basis of complex traits

Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders

Genome-wide association study identifies 30 loci associated with bipolar disorder.

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.

Extremely low-coverage sequencing and imputation increases power for genome-wide association studies

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

Cross-disorder genomewide analysis of schizophrenia, bipolar disorder, and depression

The genome-wide patterns of variation expose significant substructure in a founder population

A role for noncoding variation in schizophrenia

A genome-wide association study of depressive symptoms

Genome-wide association study of suicide attempts in mood disorder patients

Pharmacogenetic analysis of genes implicated in rodent models of antidepressant response: association of TREK1 and treatment resistance in the STAR(*)D study

Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities

The Promises and Pitfalls of Genoeconomics

The genetic structure of the Swedish population

De novo CNVs in bipolar affective disorder and schizophrenia

Family-based association study of lithium-related and other candidate genes in bipolar disorder

Implication of a rare deletion at distal 16p11.2 in schizophrenia

Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

Multivariate genomewide linkage scan of neurocognitive traits and ADHD symptoms: suggestive linkage to 3q13.

Evaluation of an approximation method for assessment of overall significance of multiple-dependent tests in a genomewide association study

Dysbindin (DTNBP1) and the Biogenesis of Lysosome-Related Organelles Complex 1 (BLOC-1): Main and Epistatic Gene Effects Are Potential Contributors to Schizophrenia Susceptibility

An Analysis of Two Genome-wide Association Meta-analyses Identifies a New Locus for Broad Depression Phenotype

New data and an old puzzle: the negative association between schizophrenia and rheumatoid arthritis