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: 341
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  • Site-wide: 44,851

Discovery Of The First Genome-Wide Significant Risk Loci For ADHD

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  • Site-wide: 754
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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: 983
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  • Site-wide: 43,752
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Common risk variants identified in autism spectrum disorder

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  • Site-wide: 1,139
  • In genetics: 29
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  • Site-wide: 2,477
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  • Site-wide: 2,338

Genomewide association study identifies 30 loci associated with bipolar disorder

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  • Site-wide: 1,348
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• Year to date:
  • Site-wide: 23,918
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  • Site-wide: 33,022

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

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  • Site-wide: 2,074
  • In genetics: 66
• Year to date:
  • Site-wide: 22,307
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  • Site-wide: 17,233

GWAS meta-analysis (N=279,930) identifies new genes and functional links to intelligence

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  • Site-wide: 2,091
  • In genetics: 69
• Year to date:
  • Site-wide: 20,060
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  • Site-wide: 23,865

Genetic meta-analysis identifies 9 novel loci and functional pathways for Alzheimers disease risk

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  • Site-wide: 2,138
  • In genetics: 71
• Year to date:
  • Site-wide: 49,502
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Genome wide meta-analysis identifies genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders.

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  • Site-wide: 2,392
  • In genomics: 237
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  • Site-wide: 18,909
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  • Site-wide: 23,026

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: 2,557
  • In genetics: 85
• Year to date:
  • Site-wide: 36,034
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  • Site-wide: 31,426

Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia

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  • Site-wide: 2,641
  • In genetic and genomic medicine: 11
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  • Site-wide: 938
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  • Site-wide: 1,037

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

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  • Site-wide: 2,662
  • In genetics: 91
• Year to date:
  • Site-wide: 96,081
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  • Site-wide: 81,817

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: 2,822
  • In genomics: 295
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  • Site-wide: 13,540
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  • Site-wide: 17,239

Genetic Identification Of Brain Cell Types Underlying Schizophrenia

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  • Site-wide: 3,614
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  • Site-wide: 84,185
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Psychiatric Genomics: An Update and an Agenda

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  • Site-wide: 3,919
  • In genetics: 146
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  • Site-wide: 62,314
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  • Site-wide: 50,710

Integrative approaches for large-scale transcriptome-wide association studies

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  • Site-wide: 4,890
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• Year to date:
  • Site-wide: 64,135
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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: 5,154
  • In psychiatry and clinical psychology: 20
• Year to date:
  • Site-wide: 1,503
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  • Site-wide: 5,424

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

• Downloaded 2,616 times
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  • Site-wide: 5,739
  • In genetics: 247
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  • Site-wide: 72,816
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  • Site-wide: 67,355

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

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  • Site-wide: 5,837
  • In genomics: 619
• Year to date:
  • Site-wide: 126,877
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  • Site-wide: 132,164

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

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  • Site-wide: 5,891
  • In genetics: 254
• Year to date:
  • Site-wide: 22,126
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  • Site-wide: 36,465

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

• Downloaded 2,449 times
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  • Site-wide: 6,356
  • In genetics: 281
• Year to date:
  • Site-wide: 9,658
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  • Site-wide: 7,965

Comparative genetic architectures of schizophrenia in East Asian and European populations

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  • Site-wide: 6,756
  • In genetics: 301
• Year to date:
  • Site-wide: 40,279
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  • Site-wide: 59,109

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

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  • Site-wide: 6,834
  • In genetics: 306
• Year to date:
  • Site-wide: 103,386
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  • Site-wide: 74,095

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

• Downloaded 2,321 times
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  • Site-wide: 6,860
  • In genetics: 307
• Year to date:
  • Site-wide: 42,648
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  • Site-wide: 30,101

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

• Downloaded 2,004 times
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  • Site-wide: 8,485
  • In genomics: 886
• Year to date:
  • Site-wide: 58,859
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  • Site-wide: 58,203

Gene Expression Elucidates Functional Impact of Polygenic Risk for Schizophrenia

• Downloaded 1,996 times
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  • Site-wide: 8,542
  • In genomics: 890
• Year to date:
  • Site-wide: 107,347
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  • Site-wide: 132,082

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

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  • Site-wide: 9,781
  • In genetics: 441
• Year to date:
  • Site-wide: 64,228
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  • Site-wide: 105,036

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

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  • Site-wide: 11,880
  • In genetics: 550
• Year to date:
  • Site-wide: 21,202
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  • Site-wide: 24,712

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

• Downloaded 1,489 times
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  • Site-wide: 13,144
  • In genomics: 1,365
• Year to date:
  • Site-wide: 92,802
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  • Site-wide: 96,065

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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  • Site-wide: 13,318
  • In genomics: 1,379
• Year to date:
  • Site-wide: 96,509
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  • Site-wide: 106,026

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

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  • Site-wide: 16,672
  • In genetics: 787
• Year to date:
  • Site-wide: 5,430
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  • Site-wide: 9,215

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

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  • Site-wide: 17,431
  • In genetics: 821
• Year to date:
  • Site-wide: 85,971
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  • Site-wide: 125,376

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

• Downloaded 1,175 times
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  • Site-wide: 18,794
  • In genomics: 1,848
• Year to date:
  • Site-wide: 123,940
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  • Site-wide: 136,516

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

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  • Site-wide: 19,563
  • In genetics: 920
• Year to date:
  • Site-wide: 105,451
• Since beginning of last month:
  • Site-wide: 116,258

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

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  • Site-wide: 21,997
  • In genomics: 2,110
• Year to date:
  • Site-wide: 105,433
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  • Site-wide: 96,137

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

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  • Site-wide: 22,033
  • In genetics: 1,018
• Year to date:
  • Site-wide: 104,498
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  • Site-wide: 88,678

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

• Downloaded 1,043 times
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  • Site-wide: 22,406
  • In genomics: 2,147
• Year to date:
  • Site-wide: 104,157
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  • Site-wide: 112,503

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

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  • Site-wide: 29,135
  • In genomics: 2,614
• Year to date:
  • Site-wide: 140,661
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  • Site-wide: 97,683

Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

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  • Site-wide: 29,633
  • In genetics: 1,378
• Year to date:
  • Site-wide: 92,680
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  • Site-wide: 97,438

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

• Downloaded 778 times
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  • Site-wide: 33,952
  • In genomics: 2,917
• Year to date:
  • Site-wide: 95,619
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  • Site-wide: 95,293

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

• Downloaded 773 times
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  • Site-wide: 34,237
  • In genetics: 1,578
• Year to date:
  • Site-wide: 116,924
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  • Site-wide: 98,248

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

• Downloaded 771 times
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  • Site-wide: 34,361
  • In genetics: 1,584
• Year to date:
  • Site-wide: 23,517
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  • Site-wide: 74,236

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

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  • Site-wide: 36,765
  • In genetics: 1,690
• Year to date:
  • Site-wide: 121,573
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  • Site-wide: 105,667

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

• Downloaded 731 times
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  • Site-wide: 37,002
  • In genomics: 3,106
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  • Site-wide: 36,092
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  • Site-wide: 56,993

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: 37,394
  • In genetics: 1,716
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  • Site-wide: 105,455
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  • Site-wide: 116,926

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

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  • Site-wide: 40,255
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  • Site-wide: 23,778

Proof of concept: Molecular prediction of schizophrenia risk

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  • Site-wide: 42,634
  • In genomics: 3,448
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  • Site-wide: 117,578
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  • Site-wide: 88,209

Characterization of single gene copy number variants in schizophrenia

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  • Site-wide: 63,194
  • In genetics: 2,819
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  • Site-wide: 130,621
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  • Site-wide: 133,440

Genetic variation in the Major Histocompatibility Complex and association with depression

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  • Site-wide: 67,729
  • In genetics: 3,019
• Year to date:
  • Site-wide: 125,251
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  • Site-wide: 115,511

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

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  • Site-wide: 86,553
  • In bioinformatics: 7,763
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  • Site-wide: 118,008

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

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  • Site-wide: 88,740
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  • Site-wide: 142,267
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  • Site-wide: 146,449

Genetic heterogeneity and subtypes of major depression

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  • Site-wide: 107,225
  • In psychiatry and clinical psychology: 451
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  • Site-wide: 20,161
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  • Site-wide: 41,453

Labile carbon limits late winter microbial activity near Arctic treeline

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  • Site-wide: 132,659
  • In ecology: 4,678
• Year to date:
  • Site-wide: 145,753
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  • Site-wide: None

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

• Downloaded 135 times
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  • Site-wide: 134,012
  • In genetic and genomic medicine: 726
• Year to date:
  • Site-wide: 42,092
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  • Site-wide: 111,103