Author: Patrick F Sullivan

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Preprints

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

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  • Site-wide: 392
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Discovery Of The First Genome-Wide Significant Risk Loci For ADHD

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  • Site-wide: 833
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  • Site-wide: 3,672
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Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression

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  • Site-wide: 1,120
  • In genetics: 26
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  • Site-wide: 44,219
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Common risk variants identified in autism spectrum disorder

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  • Site-wide: 1,248
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  • Site-wide: 2,986
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  • Site-wide: 7,758

Genomewide association study identifies 30 loci associated with bipolar disorder

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  • Site-wide: 1,507
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  • Site-wide: 27,270
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  • Site-wide: 39,016

Genome-wide Analysis of Insomnia (N=1,331,010) Identifies Novel Loci and Functional Pathways

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  • Site-wide: 2,269
  • In genetics: 67
• Year to date:
  • Site-wide: 22,043
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GWAS meta-analysis (N=279,930) identifies new genes and functional links to intelligence

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  • Site-wide: 2,306
  • In genetics: 68
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  • Site-wide: 22,880
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Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia

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  • Site-wide: 2,318
  • In genetic and genomic medicine: 10
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Genetic meta-analysis identifies 9 novel loci and functional pathways for Alzheimers disease risk

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  • Site-wide: 2,371
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  • Site-wide: 56,071

Genome wide meta-analysis identifies genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders.

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  • Site-wide: 2,620
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  • Site-wide: 22,465
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  • Site-wide: 56,616

Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions.

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  • Site-wide: 2,839
  • In genetics: 88
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  • Site-wide: 43,092
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  • Site-wide: 68,234

Regulatory variants explain much more heritability than coding variants across 11 common diseases

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  • Site-wide: 2,964
  • In genetics: 92
• Year to date:
  • Site-wide: 112,252
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  • Site-wide: 121,043

Genetic Identification of Cell Types Underlying Brain Complex Traits Yields Novel Insights Into the Etiology of Parkinson’s Disease

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  • Site-wide: 3,027
  • In genomics: 298
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  • Site-wide: 13,778
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  • Site-wide: 24,463

Genetic Identification Of Brain Cell Types Underlying Schizophrenia

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  • Site-wide: 3,993
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  • Site-wide: 108,085
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Psychiatric Genomics: An Update and an Agenda

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  • Site-wide: 4,305
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  • Site-wide: 72,697
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Genome-wide association study of over 40,000 bipolar disorder cases provides new insights into the underlying biology

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  • Site-wide: 5,166
  • In psychiatry and clinical psychology: 19
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  • Site-wide: 9,089

Integrative approaches for large-scale transcriptome-wide association studies

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  • Site-wide: 5,362
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  • Site-wide: 76,818
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  • Site-wide: 82,564

Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

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  • Site-wide: 6,288
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  • Site-wide: 25,196
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  • Site-wide: 37,294

Genome-wide association study of depression phenotypes in UK Biobank (n = 322,580) identifies the enrichment of variants in excitatory synaptic pathways

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  • Site-wide: 6,314
  • In genetics: 259
• Year to date:
  • Site-wide: 86,366
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  • Site-wide: 126,387

Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights

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  • Site-wide: 6,442
  • In genomics: 654
• Year to date:
  • Site-wide: 126,488
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  • Site-wide: 112,483

Using three-dimensional regulatory chromatin interactions from adult and fetal cortex to interpret genetic results for psychiatric disorders and cognitive traits

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  • Site-wide: 6,678
  • In genetics: 275
• Year to date:
  • Site-wide: 11,993
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  • Site-wide: 26,730

Comparative genetic architectures of schizophrenia in East Asian and European populations

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  • Site-wide: 7,353
  • In genetics: 310
• Year to date:
  • Site-wide: 51,590
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  • Site-wide: 91,045

GWAS Meta-Analysis of Neuroticism (N=449,484) Identifies Novel Genetic Loci and Pathways

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  • Site-wide: 7,414
  • In genetics: 315
• Year to date:
  • Site-wide: 50,207
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  • Site-wide: 63,035

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

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  • Site-wide: 7,506
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• Year to date:
  • Site-wide: 118,519
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  • Site-wide: 112,655

Human loss-of-function variants suggest that partial LRRK2 inhibition is a safe therapeutic strategy for Parkinson’s disease

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  • Site-wide: 9,105
  • In genomics: 914
• Year to date:
  • Site-wide: 61,392
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  • Site-wide: 64,151

Gene Expression Elucidates Functional Impact of Polygenic Risk for Schizophrenia

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  • Site-wide: 9,260
  • In genomics: 930
• Year to date:
  • Site-wide: 104,550
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  • Site-wide: 71,795

A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

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  • Site-wide: 10,628
  • In genetics: 459
• Year to date:
  • Site-wide: 77,904
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  • Site-wide: 105,183

Conditional GWAS analysis identifies putative disorder-specific SNPs for psychiatric disorders

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  • Site-wide: 12,210
  • In genetics: 532
• Year to date:
  • Site-wide: 23,613
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  • Site-wide: 44,823

Sex-Dependent Shared and Non-Shared Genetic Architecture Across Mood and Psychotic Disorders

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  • Site-wide: 12,523
  • In genetics: 547
• Year to date:
  • Site-wide: 4,421
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  • Site-wide: 3,621

Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders

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  • Site-wide: 14,335
  • In genomics: 1,425
• Year to date:
  • Site-wide: 107,390
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  • Site-wide: 134,881

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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  • Site-wide: 14,651
  • In genomics: 1,451
• Year to date:
  • Site-wide: 117,239
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  • Site-wide: 111,377

Genetic stratification of depression in UK Biobank suggests a subgroup linked to age of natural menopause

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  • Site-wide: 18,846
  • In genetics: 850
• Year to date:
  • Site-wide: 97,593
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  • Site-wide: 85,144

Evaluation Of Chromatin Accessibility In Prefrontal Cortex Of Schizophrenia Cases And Controls

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  • Site-wide: 20,206
  • In genomics: 1,923
• Year to date:
  • Site-wide: 122,348
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  • Site-wide: 121,353

Gene expression imputation across multiple brain regions reveals schizophrenia risk throughout development.

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  • Site-wide: 21,107
  • In genetics: 941
• Year to date:
  • Site-wide: 113,998
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  • Site-wide: 111,486

Rare loss-of-function variants in KMT2F are associated with schizophrenia and developmental disorders

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  • Site-wide: 23,957
  • In genomics: 2,222
• Year to date:
  • Site-wide: 108,474
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  • Site-wide: 121,274

Functional consequences of genetic loci associated with intelligence in a meta-analysis of 87,740 individuals

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  • Site-wide: 24,021
  • In genomics: 2,226
• Year to date:
  • Site-wide: 123,110
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  • Site-wide: 111,384

Building a schizophrenia genetic network: Transcription Factor 4 regulates genes involved in neuronal development and schizophrenia risk.

• Downloaded 1,073 times
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  • Site-wide: 24,075
  • In genetics: 1,072
• Year to date:
  • Site-wide: 123,129
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  • Site-wide: 112,584

Functional partitioning of local and distal gene expression regulation in multiple human tissues

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  • Site-wide: 30,637
  • In genomics: 2,658
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  • Site-wide: 124,640
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  • Site-wide: 59,852

Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

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  • Site-wide: 31,813
  • In genetics: 1,421
• Year to date:
  • Site-wide: 104,315
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  • Site-wide: 78,815

Shared Genetic Risk between Eating Disorder- and Substance-Use-Related Phenotypes: Evidence from Genome-Wide Association Studies

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  • Site-wide: 34,869
  • In genetics: 1,555
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  • Site-wide: 29,704
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  • Site-wide: 34,556

Integrative analysis of rare variants and pathway information shows convergent results between immune pathways, drug targets and epilepsy genes

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  • Site-wide: 35,127
  • In genomics: 2,950
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  • Site-wide: 49,763

Reproducible Risk Loci and Psychiatric Comorbidities in Anxiety: Results from ~200,000 Million Veteran Program Participants

• Downloaded 798 times
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  • Site-wide: 36,956
  • In genetics: 1,626
• Year to date:
  • Site-wide: 125,169
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  • Site-wide: 113,969

Large-scale analysis of DNA methylation identifies cellular alterations in blood from psychosis patients and molecular biomarkers of treatment-resistant schizophrenia.

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  • Site-wide: 38,058
  • In genomics: 3,122
• Year to date:
  • Site-wide: 43,649
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  • Site-wide: 65,933

Evidence of causal effect of major depression on alcohol dependence: Findings from the Psychiatric Genomics Consortium

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  • Site-wide: 39,714
  • In genetics: 1,744
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  • Site-wide: 131,063
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  • Site-wide: 106,059

Genome-wide Association Study of Clinical Features in the Schizophrenia Psychiatric Genomics Consortium: Confirmation of Polygenic Effect on Negative Symptoms

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  • Site-wide: 40,030
  • In genetics: 1,755
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  • Site-wide: 114,093
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  • Site-wide: 111,341

Schizophrenia is characterized by age- and sex-specific effects on epigenetic aging

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  • Site-wide: 40,010
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  • Site-wide: 45,037

Proof of concept: Molecular prediction of schizophrenia risk

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  • Site-wide: 46,885
  • In genomics: 3,657
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  • Site-wide: 140,940

Characterization of single gene copy number variants in schizophrenia

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  • Site-wide: 69,692
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  • Site-wide: 140,601

Genetic variation in the Major Histocompatibility Complex and association with depression

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  • Site-wide: 74,294
  • In genetics: 3,195
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  • Site-wide: 145,491
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  • Site-wide: 152,448

THUNDER: A reference-free deconvolution method to infer cell type proportions from bulk Hi-C data

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  • Site-wide: 86,390
  • In bioinformatics: 7,719
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  • Site-wide: 42,426
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  • Site-wide: 10,783

Association Tests Using Copy Number Profile Curves (CONCUR) Enhances Power in Rare Copy Number Variant Analysis

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  • Site-wide: 94,617
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  • Site-wide: 125,608

mTADA: a framework for analyzing de novo mutations in multiple traits

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  • Site-wide: 96,712
  • In genomics: 5,947
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  • Site-wide: 139,377

Genetic heterogeneity and subtypes of major depression

• Downloaded 339 times
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  • Site-wide: 98,375
  • In psychiatry and clinical psychology: 409
• Year to date:
  • Site-wide: 22,867
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  • Site-wide: 33,618

Methylome-wide association study of early life stressors and adult mental health reveals a relationship between birth date and cell type composition in blood

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  • Site-wide: 135,953
  • In genetic and genomic medicine: 771
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  • Site-wide: 48,662

Labile carbon limits late winter microbial activity near Arctic treeline

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