Author: Juha Karjalainen

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Preprints

Transcript expression-aware annotation improves rare variant discovery and interpretation

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  • Site-wide: 2,620
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  • Site-wide: 6,611
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  • Site-wide: 26,887

Genetic analyses identify widespread sex-differential participation bias

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  • Site-wide: 3,712
  • In genetics: 175
• Year to date:
  • Site-wide: 9,239
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  • Site-wide: 13,556

Polygenic and clinical risk scores and their impact on age at onset of cardiometabolic diseases and common cancers

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  • Site-wide: 4,221
  • In genomics: 503
• Year to date:
  • Site-wide: 17,591
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  • Site-wide: 15,156

A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease

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  • Site-wide: 5,233
  • In genomics: 629
• Year to date:
  • Site-wide: 41,474
• Since beginning of last month:
  • Site-wide: 44,857

Cell specific eQTL analysis without sorting cells

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  • Site-wide: 6,600
  • In genetics: 333
• Year to date:
  • Site-wide: 121,588
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  • Site-wide: 80,115

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

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  • Site-wide: 7,923
  • In genetics: 399
• Year to date:
  • Site-wide: 15,725
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  • Site-wide: 40,739

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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  • Site-wide: 10,808
  • In genomics: 1,227
• Year to date:
  • Site-wide: 68,502
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  • Site-wide: 103,093

Trans-biobank analysis with 676,000 individuals elucidates the association of polygenic risk scores of complex traits with human lifespan

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  • Site-wide: 14,202
  • In genetics: 740
• Year to date:
  • Site-wide: 16,916
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  • Site-wide: 23,900

Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

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  • Site-wide: 15,200
  • In genetics: 789
• Year to date:
  • Site-wide: 36,715
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  • Site-wide: 19,088

Genetics of human plasma lipidome: Understanding lipid metabolism and its link to diseases beyond traditional lipids

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  • Site-wide: 15,246
  • In genetics: 792
• Year to date:
  • Site-wide: 37,103
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  • Site-wide: 59,583

A global atlas of genetic associations of 220 deep phenotypes

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  • Site-wide: 17,999
  • In genetic and genomic medicine: 48
• Year to date:
  • Site-wide: 7,675
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  • Site-wide: 7,257

Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility

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  • Site-wide: 19,740
  • In genetic and genomic medicine: 54
• Year to date:
  • Site-wide: 11,376
• Since beginning of last month:
  • Site-wide: 8,068

Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma

• Downloaded 898 times
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  • Site-wide: 21,650
  • In genetics: 1,087
• Year to date:
  • Site-wide: 74,772
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  • Site-wide: 61,105

A large cross-ancestry meta-analysis of genome-wide association studies identifies 69 novel risk loci for primary open-angle glaucoma and includes a genetic link with Alzheimer's disease

• Downloaded 762 times
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  • Site-wide: 27,286
  • In genetics: 1,378
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  • Site-wide: 31,366
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  • Site-wide: 17,491

CCR5-del32 is not deleterious in the homozygous state in humans

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  • Site-wide: 34,391
  • In genetics: 1,719
• Year to date:
  • Site-wide: 55,059
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  • Site-wide: 63,559

Junction-skipping regulation in complex disease

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  • Site-wide: 67,624
  • In genetics: 3,205
• Year to date:
  • Site-wide: 98,172
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  • Site-wide: 109,651

ANGPTL8 protein-truncating variant and the risk of coronary disease, type 2 diabetes and adverse effects

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  • Site-wide: 76,465
  • In genetic and genomic medicine: 215
• Year to date:
  • Site-wide: 51,218
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  • Site-wide: 27,354

An efficient and accurate frailty model approach for genome-wide survival association analysis controlling for population structure and relatedness in large-scale biobanks

• Downloaded 246 times
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  • Site-wide: 87,784
  • In genomics: 5,523
• Year to date:
  • Site-wide: 9,698
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  • Site-wide: 9,375

Shared genetic etiology between idiopathic pulmonary fibrosis and COVID-19 severity

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  • Site-wide: 91,534
  • In genetic and genomic medicine: 299
• Year to date:
  • Site-wide: 2,832
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  • Site-wide: 2,923

Genetic analysis of obstructive sleep apnoea discovers a strong association with cardiometabolic health

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  • Site-wide: 91,846
  • In genetics: 4,255
• Year to date:
  • Site-wide: 113,982
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  • Site-wide: 24,454

Genome-wide Screen of Otosclerosis in Population Biobanks: 18 Loci and Shared Heritability with Skeletal Structure

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  • Site-wide: 114,855
  • In genetic and genomic medicine: 468
• Year to date:
  • Site-wide: 52,173
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  • Site-wide: 36,447