User profiles for Juha Karjalainen

Juha Karjalainen

Computational scientist, Broad Institute of MIT and Harvard
Verified email at broadinstitute.org
Cited by 32174

[HTML][HTML] Biological interpretation of genome-wide association studies using predicted gene functions

TH Pers, JM Karjalainen, Y Chan, HJ Westra… - Nature …, 2015 - nature.com
The main challenge for gaining biological insights from genetic associations is identifying
which genes and pathways explain the associations. Here we present DEPICT, an integrative …

Genetic studies of body mass index yield new insights for obesity biology

…, J Chen, R Fehrmann, ÅK Hedman, J Karjalainen… - Nature, 2015 - nature.com
Obesity is heritable and predisposes to many diseases. To understand the genetic basis of
obesity better, here we conduct a genome-wide association study and Metabochip meta-…

[HTML][HTML] FinnGen provides genetic insights from a well-phenotyped isolated population

MI Kurki, J Karjalainen, P Palta, TP Sipilä… - Nature, 2023 - nature.com
Population isolates such as those in Finland benefit genetic research because deleterious
alleles are often concentrated on a small number of low-frequency variants (0.1% ≤ minor …

A cross-population atlas of genetic associations for 220 human phenotypes

S Sakaue, M Kanai, Y Tanigawa, J Karjalainen… - Nature …, 2021 - nature.com
Current genome-wide association studies do not yet capture sufficient diversity in
populations and scope of phenotypes. To expand an atlas of genetic associations in non-European …

Defining the role of common variation in the genomic and biological architecture of adult human height

…, R Fehrmann, T Ferreira, AU Jackson, J Karjalainen… - Nature …, 2014 - nature.com
Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide
significance that together explained one-fifth of the heritability for adult height. By testing …

Systematic identification of trans eQTLs as putative drivers of known disease associations

…, JH Veldink, LH Van den Berg, J Karjalainen… - Nature …, 2013 - nature.com
Identifying the downstream effects of disease-associated SNPs is challenging. To help
overcome this problem, we performed expression quantitative trait locus (eQTL) meta-analysis in …

New genetic loci link adipose and insulin biology to body fat distribution

…, AR Wood, J Chen, R Fehrmann, J Karjalainen… - Nature, 2015 - nature.com
Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic
outcomes, independent of overall adiposity. To increase our understanding of the genetic …

[PDF][PDF] Modeling linkage disequilibrium increases accuracy of polygenic risk scores

…, S Karachanak-Yankova, J Karjalainen… - The american journal of …, 2015 - cell.com
Polygenic risk scores have shown great promise in predicting complex disease risk and will
become more accurate as training sample sizes increase. The standard approach for …

FinnGen: Unique genetic insights from combining isolated population and national health register data

MI Kurki, J Karjalainen, P Palta, TP Sipilä… - MedRxiv, 2022 - medrxiv.org
Population isolates such as Finland provide benefits in genetic studies because the allelic
spectrum of damaging alleles in any gene is often concentrated on a small number of low-…

GWAS of 126,559 individuals identifies genetic variants associated with educational attainment

…, A Jugessur, M Kaakinen, S Kanoni, J Karjalainen… - science, 2013 - science.org
A genome-wide association study (GWAS) of educational attainment was conducted in a
discovery sample of 101,069 individuals and a replication sample of 25,490. Three …