Author: Kari Stefansson

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Preprints

Early Spread of SARS-Cov-2 in the Icelandic Population

• Downloaded 12,104 times
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  • Site-wide: 805
  • In epidemiology: 120
• Year to date:
  • Site-wide: 12,942
• Since beginning of last month:
  • Site-wide: 23,429

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

• Downloaded 9,502 times
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  • Site-wide: 1,107
  • In genetics: 26
• Year to date:
  • Site-wide: 44,043
• Since beginning of last month:
  • Site-wide: 31,967

Common risk variants identified in autism spectrum disorder

• Downloaded 8,712 times
• Download rankings, all-time:
  • Site-wide: 1,229
  • In genetics: 28
• Year to date:
  • Site-wide: 2,836
• Since beginning of last month:
  • Site-wide: 4,843

Genomewide association study identifies 30 loci associated with bipolar disorder

• Downloaded 7,482 times
• Download rankings, all-time:
  • Site-wide: 1,489
  • In genetics: 41
• Year to date:
  • Site-wide: 26,017
• Since beginning of last month:
  • Site-wide: 33,852

Long read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits

• Downloaded 6,598 times
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  • Site-wide: 1,744
  • In genetics: 52
• Year to date:
  • Site-wide: 2,191
• Since beginning of last month:
  • Site-wide: 5,957

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

• Downloaded 5,285 times
• Download rankings, all-time:
  • Site-wide: 2,351
  • In genetics: 73
• Year to date:
  • Site-wide: 57,730
• Since beginning of last month:
  • Site-wide: 64,821

The nature of nurture: effects of parental genotypes

• Downloaded 4,994 times
• Download rankings, all-time:
  • Site-wide: 2,561
  • In genetics: 77
• Year to date:
  • Site-wide: 7,559
• Since beginning of last month:
  • Site-wide: 4,304

Genome-wide association study of 1 million people identifies 111 loci for atrial fibrillation

• Downloaded 3,385 times
• Download rankings, all-time:
  • Site-wide: 4,385
  • In genetics: 157
• Year to date:
  • Site-wide: 65,657
• Since beginning of last month:
  • Site-wide: 93,269

Genome-wide association study of over 40,000 bipolar disorder cases provides new insights into the underlying biology

• Downloaded 2,993 times
• Download rankings, all-time:
  • Site-wide: 5,224
  • In psychiatry and clinical psychology: 19
• Year to date:
  • Site-wide: 1,980
• Since beginning of last month:
  • Site-wide: 11,466

Largest GWAS (N=1,126,563) of Alzheimer's Disease Implicates Microglia and Immune Cells

• Downloaded 2,908 times
• Download rankings, all-time:
  • Site-wide: 5,450
  • In genetic and genomic medicine: 23
• Year to date:
  • Site-wide: 2,275
• Since beginning of last month:
  • Site-wide: 2,446

Estimating heritability without environmental bias

• Downloaded 2,697 times
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  • Site-wide: 6,061
  • In genetics: 254
• Year to date:
  • Site-wide: 45,648
• Since beginning of last month:
  • Site-wide: 59,827

Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

• Downloaded 2,539 times
• Download rankings, all-time:
  • Site-wide: 6,631
  • In genetics: 276
• Year to date:
  • Site-wide: 129,268
• Since beginning of last month:
  • Site-wide: 143,174

Recurrence of de novo mutations in families

• Downloaded 2,006 times
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  • Site-wide: 9,332
  • In genomics: 931
• Year to date:
  • Site-wide: 84,904
• Since beginning of last month:
  • Site-wide: 94,501

Genetic insights into the biological mechanisms governing human ovarian ageing

• Downloaded 1,919 times
• Download rankings, all-time:
  • Site-wide: 9,971
  • In sexual and reproductive health: 10
• Year to date:
  • Site-wide: 1,720
• Since beginning of last month:
  • Site-wide: 1,313

Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

• Downloaded 1,899 times
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  • Site-wide: 10,134
  • In genetics: 431
• Year to date:
  • Site-wide: 108,623
• Since beginning of last month:
  • Site-wide: 104,171

PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

• Downloaded 1,753 times
• Download rankings, all-time:
  • Site-wide: 11,417
  • In genetics: 493
• Year to date:
  • Site-wide: 67,150
• Since beginning of last month:
  • Site-wide: 114,294

Trans-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

• Downloaded 1,592 times
• Download rankings, all-time:
  • Site-wide: 13,092
  • In genetic and genomic medicine: 60
• Year to date:
  • Site-wide: 6,358
• Since beginning of last month:
  • Site-wide: 9,751

Genome-wide association study provides new insights into the genetic architecture and pathogenesis of heart failure

• Downloaded 1,521 times
• Download rankings, all-time:
  • Site-wide: 14,021
  • In genetics: 625
• Year to date:
  • Site-wide: 107,328
• Since beginning of last month:
  • Site-wide: 70,215

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

• Downloaded 1,494 times
• Download rankings, all-time:
  • Site-wide: 14,448
  • In genomics: 1,441
• Year to date:
  • Site-wide: 113,596
• Since beginning of last month:
  • Site-wide: 94,136

Genetic predisposition to mosaic Y chromosome loss in blood is associated with genomic instability in other tissues and susceptibility to non-haematological cancers

• Downloaded 1,450 times
• Download rankings, all-time:
  • Site-wide: 15,147
  • In genetics: 680
• Year to date:
  • Site-wide: 69,426
• Since beginning of last month:
  • Site-wide: 94,192

The genetic architecture of osteoarthritis: insights from UK Biobank

• Downloaded 1,392 times
• Download rankings, all-time:
  • Site-wide: 16,130
  • In genetics: 731
• Year to date:
  • Site-wide: 96,284
• Since beginning of last month:
  • Site-wide: 124,438

Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

• Downloaded 1,294 times
• Download rankings, all-time:
  • Site-wide: 17,955
  • In genomics: 1,730
• Year to date:
  • Site-wide: 105,621
• Since beginning of last month:
  • Site-wide: 114,064

Large-Scale Genome-Wide Meta Analysis of Polycystic Ovary Syndrome Suggests Shared Genetic Architecture for Different Diagnosis Criteria.

• Downloaded 1,110 times
• Download rankings, all-time:
  • Site-wide: 22,566
  • In genetics: 1,006
• Year to date:
  • Site-wide: 107,457
• Since beginning of last month:
  • Site-wide: 132,144

Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles

• Downloaded 691 times
• Download rankings, all-time:
  • Site-wide: 44,303
  • In genetic and genomic medicine: 190
• Year to date:
  • Site-wide: 7,382
• Since beginning of last month:
  • Site-wide: 7,965

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

• Downloaded 666 times
• Download rankings, all-time:
  • Site-wide: 46,559
  • In genomics: 3,650
• Year to date:
  • Site-wide: 124,621
• Since beginning of last month:
  • Site-wide: 84,858

Genome-wide association meta-analysis of PR interval identifies 47 novel loci associated with atrial and atrioventricular electrical activity

• Downloaded 620 times
• Download rankings, all-time:
  • Site-wide: 51,135
  • In genetics: 2,233
• Year to date:
  • Site-wide: 108,631
• Since beginning of last month:
  • Site-wide: 120,932

Discovering patterns of pleiotropy in genome-wide association studies

• Downloaded 620 times
• Download rankings, all-time:
  • Site-wide: 51,119
  • In genetics: 2,232
• Year to date:
  • Site-wide: 126,794
• Since beginning of last month:
  • Site-wide: 120,306

Shared heritability and functional enrichment across six solid cancers

• Downloaded 568 times
• Download rankings, all-time:
  • Site-wide: 57,027
  • In genomics: 4,231
• Year to date:
  • Site-wide: 131,445
• Since beginning of last month:
  • Site-wide: 114,542

A rare missense mutation in MYH6 confers high risk of coarctation of the aorta

• Downloaded 562 times
• Download rankings, all-time:
  • Site-wide: 57,756
  • In genetics: 2,505
• Year to date:
  • Site-wide: 120,120
• Since beginning of last month:
  • Site-wide: 134,102

Genome-wide analysis yields new loci associating with aortic valve stenosis

• Downloaded 560 times
• Download rankings, all-time:
  • Site-wide: 58,021
  • In genetics: 2,514
• Year to date:
  • Site-wide: 153,749
• Since beginning of last month:
  • Site-wide: 156,392

Mutations in RPL3L and MYZAP increase risk of atrial fibrillation

• Downloaded 491 times
• Download rankings, all-time:
  • Site-wide: 67,601
  • In genetics: 2,920
• Year to date:
  • Site-wide: 119,851
• Since beginning of last month:
  • Site-wide: 124,511

Genetic associations and architecture of asthma-chronic obstructive pulmonary disease overlap

• Downloaded 304 times
• Download rankings, all-time:
  • Site-wide: 104,962
  • In genetic and genomic medicine: 537
• Year to date:
  • Site-wide: 43,152
• Since beginning of last month:
  • Site-wide: 55,361