Author: Hakon Hakonarson

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Preprints

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

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  • Site-wide: 667
  • In genetics: 18
• Year to date:
  • Site-wide: 5,759
• Since beginning of last month:
  • Site-wide: 4,685

Phenome-wide association studies (PheWAS) across large "real-world data" population cohorts support drug target validation

• Downloaded 3,481 times
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  • Site-wide: 3,139
  • In genetics: 126
• Year to date:
  • Site-wide: 38,372
• Since beginning of last month:
  • Site-wide: 35,418

Genetic correlations among psychiatric and immune-related phenotypes based on genome-wide association data.

• Downloaded 2,931 times
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  • Site-wide: 3,972
  • In bioinformatics: 422
• Year to date:
  • Site-wide: 29,789
• Since beginning of last month:
  • Site-wide: 37,548

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

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  • Site-wide: 6,904
  • In genetics: 338
• Year to date:
  • Site-wide: 29,701
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  • Site-wide: 17,704

A cross-disorder dosage sensitivity map of the human genome

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  • Site-wide: 10,368
  • In genetic and genomic medicine: 33
• Year to date:
  • Site-wide: 338
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  • Site-wide: 185

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

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  • Site-wide: 11,886
  • In genetics: 597
• Year to date:
  • Site-wide: 86,160
• Since beginning of last month:
  • Site-wide: 87,047

LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing data

• Downloaded 1,216 times
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  • Site-wide: 14,713
  • In bioinformatics: 1,807
• Year to date:
  • Site-wide: None
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  • Site-wide: None

Genome-wide association study of offspring birth weight in 86,577 women highlights maternal genetic effects that are independent of fetal genetics

• Downloaded 1,193 times
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  • Site-wide: 15,132
  • In genetics: 775
• Year to date:
  • Site-wide: 62,030
• Since beginning of last month:
  • Site-wide: 57,859

Pathologic gene network rewiring implicates PPP1R3A as a central cardioprotective factor in pressure overload heart failure

• Downloaded 1,041 times
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  • Site-wide: 18,567
  • In genomics: 1,917
• Year to date:
  • Site-wide: 58,074
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  • Site-wide: 63,143

Whole Genome Sequencing of Pharmacogenetic Drug Response in Racially and Ethnically Diverse Children with Asthma

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  • Site-wide: 19,624
  • In genetics: 978
• Year to date:
  • Site-wide: 75,285
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  • Site-wide: 97,801

Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

• Downloaded 825 times
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  • Site-wide: 25,934
  • In genetics: 1,287
• Year to date:
  • Site-wide: 62,702
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  • Site-wide: 63,834

Low frequency and rare coding variation contributes to multiple sclerosis risk

• Downloaded 774 times
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  • Site-wide: 28,307
  • In genetics: 1,410
• Year to date:
  • Site-wide: 82,347
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  • Site-wide: 63,781

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

• Downloaded 633 times
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  • Site-wide: 37,236
  • In genetics: 1,814
• Year to date:
  • Site-wide: 14,888
• Since beginning of last month:
  • Site-wide: 6,395

Genetic architecture of early childhood growth phenotypes gives insights into their link with later obesity

• Downloaded 624 times
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  • Site-wide: 37,974
  • In genomics: 3,240
• Year to date:
  • Site-wide: 75,431
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  • Site-wide: 89,623

Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9

• Downloaded 561 times
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  • Site-wide: 43,373
  • In genetics: 2,089
• Year to date:
  • Site-wide: 61,816
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  • Site-wide: None

Atlas-CNV: a validated approach to call Single-Exon CNVs in the eMERGESeq gene panel

• Downloaded 511 times
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  • Site-wide: 48,474
  • In genomics: 3,864
• Year to date:
  • Site-wide: 87,689
• Since beginning of last month:
  • Site-wide: 75,763

Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 are associated with gestational duration

• Downloaded 506 times
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  • Site-wide: 49,064
  • In genetics: 2,341
• Year to date:
  • Site-wide: 104,739
• Since beginning of last month:
  • Site-wide: 95,997

Novel KITLG regulatory variants are associated with lung function in African American children with asthma

• Downloaded 482 times
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  • Site-wide: 51,898
  • In allergy and immunology: 62
• Year to date:
  • Site-wide: 50,455
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  • Site-wide: 55,460

Genome wide association analysis in dilated cardiomyopathy reveals two new key players in systolic heart failure on chromosome 3p25.1 and 22q11.23

• Downloaded 476 times
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  • Site-wide: 52,602
  • In genomics: 4,100
• Year to date:
  • Site-wide: 19,655
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  • Site-wide: 18,421

Genome-wide association study implicates novel loci and reveals candidate effector genes for longitudinal pediatric bone accrual through variant-to-gene mapping

• Downloaded 461 times
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  • Site-wide: 54,429
  • In genetic and genomic medicine: 160
• Year to date:
  • Site-wide: 87,956
• Since beginning of last month:
  • Site-wide: 83,596

Genomic risk scores for juvenile idiopathic arthritis and its subtypes

• Downloaded 439 times
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  • Site-wide: 57,459
  • In rheumatology: 30
• Year to date:
  • Site-wide: 84,735
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  • Site-wide: 67,674

Clinical and Functional Characterization of Melanocortin 4 Receptor genetic variants in African American and/or Hispanic children with severe early onset obesity.

• Downloaded 430 times
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  • Site-wide: 58,607
  • In genetics: 2,776
• Year to date:
  • Site-wide: 107,155
• Since beginning of last month:
  • Site-wide: 76,504

Dissecting the shared genetic architecture of suicide attempt, psychiatric disorders and known risk factors

• Downloaded 414 times
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  • Site-wide: 60,890
  • In genetic and genomic medicine: 182
• Year to date:
  • Site-wide: 10,713
• Since beginning of last month:
  • Site-wide: 16,772

A polygenic and phenotypic risk prediction for Polycystic Ovary Syndrome evaluated by Phenome-wide association studies

• Downloaded 401 times
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  • Site-wide: 63,035
  • In bioinformatics: 6,175
• Year to date:
  • Site-wide: None
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  • Site-wide: None

Epistasis Detection using Model-Based Multifactor Dimensionality Reduction in Structured Populations

• Downloaded 395 times
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  • Site-wide: 63,955
  • In bioinformatics: 6,253
• Year to date:
  • Site-wide: 43,823
• Since beginning of last month:
  • Site-wide: 71,659

Genetic correlations between COVID-19 and a variety of diseases and other medically relevant traits

• Downloaded 354 times
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  • Site-wide: 70,538
  • In genetic and genomic medicine: 214
• Year to date:
  • Site-wide: 14,212
• Since beginning of last month:
  • Site-wide: 16,296

The Infection Rate of the Coronavirus Disease 2019 (COVID-19) in Wuhan, China

• Downloaded 352 times
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  • Site-wide: 71,024
  • In infectious diseases: 2,950
• Year to date:
  • Site-wide: 90,073
• Since beginning of last month:
  • Site-wide: 68,725

Neuroinflammation and EIF2 signaling persist in an HiPSC tri-culture model of HIV infection despite antiretroviral treatment

• Downloaded 310 times
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  • Site-wide: 78,672
  • In pathology: 397
• Year to date:
  • Site-wide: 96,416
• Since beginning of last month:
  • Site-wide: 72,401

Integrative Genetics Analysis of Juvenile Idiopathic Arthritis Identifies Novel Loci

• Downloaded 301 times
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  • Site-wide: 80,516
  • In allergy and immunology: 89
• Year to date:
  • Site-wide: 66,334
• Since beginning of last month:
  • Site-wide: 83,892

A genome-wide association study of polycystic ovary syndrome identified from electronic health records

• Downloaded 282 times
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  • Site-wide: 84,334
  • In genetic and genomic medicine: 277
• Year to date:
  • Site-wide: 120,281
• Since beginning of last month:
  • Site-wide: 98,996

Genetic association of primary non-response to Anti-TNFα therapy in patients with Inflammatory Bowel Disease

• Downloaded 272 times
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  • Site-wide: 86,283
  • In genetic and genomic medicine: 287
• Year to date:
  • Site-wide: 28,702
• Since beginning of last month:
  • Site-wide: 47,448

Machine Learning for Interpretation of DNA Variants of Maturity-Onset Diabetes of the Young Genes Based on ACMG Criteria

• Downloaded 272 times
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  • Site-wide: 86,302
  • In genetic and genomic medicine: 285
• Year to date:
  • Site-wide: 41,366
• Since beginning of last month:
  • Site-wide: 35,159

Targeting CSF-1 ameliorates experimental autoimmune encephalomyelitis by depleting inflammatory monocytes and microglia in the central nervous system without affecting quiescent microglia.

• Downloaded 211 times
• Download rankings, all-time:
  • Site-wide: 99,555
  • In immunology: 2,755
• Year to date:
  • Site-wide: 63,693
• Since beginning of last month:
  • Site-wide: 53,338

FLNC and MYLK2 gene mutations in a Chinese family with different phenotypes of cardiomyopathy

• Downloaded 188 times
• Download rankings, all-time:
  • Site-wide: 104,525
  • In cardiovascular medicine: 208
• Year to date:
  • Site-wide: 103,773
• Since beginning of last month:
  • Site-wide: 98,565

Risk of preeclampsia in patients with genetic predisposition to common medical conditions: a case-control study

• Downloaded 171 times
• Download rankings, all-time:
  • Site-wide: 108,037
  • In genetics: 4,795
• Year to date:
  • Site-wide: 102,907
• Since beginning of last month:
  • Site-wide: None

Machine learning reduced gene/non-coding RNA features that classify Schizophrenia patients accurately and highlight insightful gene clusters

• Downloaded 171 times
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  • Site-wide: 108,020
  • In psychiatry and clinical psychology: 420
• Year to date:
  • Site-wide: 68,140
• Since beginning of last month:
  • Site-wide: 53,824

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

• Downloaded 157 times
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  • Site-wide: 110,890
  • In genetic and genomic medicine: 469
• Year to date:
  • Site-wide: 28,733
• Since beginning of last month:
  • Site-wide: 33,596

Genetics of Low Polygenic Risk Score Type 1 Diabetes Patients: rare variants in 22 novel loci

• Downloaded 152 times
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  • Site-wide: 111,825
  • In genetic and genomic medicine: 482
• Year to date:
  • Site-wide: 77,608
• Since beginning of last month:
  • Site-wide: 99,764

RUNX1 haploinsufficiency causes a marked deficiency of megakaryocyte-biased hematopoietic progenitor cells: Mechanistic studies and drug correction

• Downloaded 136 times
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  • Site-wide: 114,741
  • In molecular biology: 3,453
• Year to date:
  • Site-wide: 38,869
• Since beginning of last month:
  • Site-wide: 24,828

Genomic Considerations for FHIR; eMERGE Implementation Lessons

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  • Site-wide: 120,620
  • In genomics: 6,576
• Year to date:
  • Site-wide: 11,426
• Since beginning of last month:
  • Site-wide: 3,429