Author: Matti Pirinen

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Preprints

Functionally-informed fine-mapping and polygenic localization of complex trait heritability

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Bayesian model comparison for rare variant association studies of multiple phenotypes

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Assessing allele specific expression across multiple tissues from RNA-seq read data

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  • Site-wide: 111,225
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metaCCA: Summary statistics-based multivariate meta-analysis of genome-wide association studies using canonical correlation analysis

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  • Site-wide: 10,522
  • In bioinformatics: 1,283
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Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

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  • Site-wide: 11,121
  • In genetics: 534
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Refining fine-mapping: effect sizes and regional heritability

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  • Site-wide: 11,934
  • In genetics: 580
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  • Site-wide: 33,480
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Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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  • Site-wide: 11,939
  • In genomics: 1,296
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Exome sequencing identifies high-impact trait-associated alleles enriched in Finns

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  • In genomics: 1,322
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  • Site-wide: 97,605

FINEMAP: Efficient variable selection using summary data from genome-wide association studies

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

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  • In genetics: 816
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Haplotype sharing provides insights into fine-scale population history and disease in Finland

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  • Site-wide: 66,193
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Geographic variation and bias in polygenic scores of complex diseases and traits in Finland

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  • Site-wide: 20,140
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  • Site-wide: 118,673
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  • Site-wide: 106,495

Polygenic risk, susceptibility genes, and breast cancer over the life course

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  • Site-wide: 26,998
  • In oncology: 30
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  • Site-wide: 40,653
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Bayesian meta-analysis across genome-wide association studies of diverse phenotypes

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  • Site-wide: 36,585
  • In genetics: 1,744
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  • Site-wide: 107,204
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An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease

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  • Site-wide: 36,759
  • In genetics: 1,752
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MetaPhat: Detecting and decomposing multivariate associations from univariate genome-wide association statistics

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  • Site-wide: 42,853
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Contribution of rare and common variants to intellectual disability in a high-risk population sub-isolate of Northern Finland

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  • Site-wide: 118,380

biMM: Efficient estimation of genetic variances and covariances for cohorts with high-dimensional phenotype measurements

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  • Site-wide: 48,362
  • In genetics: 2,275
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Association of social isolation, loneliness, and genetic risk with incidence of dementia: UK Biobank cohort study

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  • Site-wide: 53,403
  • In epidemiology: 2,352
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Whole genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom

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  • Site-wide: 55,134
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  • Site-wide: 126,246
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High-resolution population-specific recombination rates and their effect on phasing and genotype imputation

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  • Site-wide: 81,428
  • In genomics: 5,316
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Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles

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  • Site-wide: 83,666
  • In genetic and genomic medicine: 299
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Polygenic Hyperlipidemias and Coronary Artery Disease Risk

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  • Site-wide: 86,307
  • In genomics: 5,504
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  • Site-wide: 96,232
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  • Site-wide: 111,863

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

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  • In genetic and genomic medicine: 529
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