User profiles for Juha Karjalainen
Juha KarjalainenComputational 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
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 …
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
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-…
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
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 …
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
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 …
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 …
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 …
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
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 …
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 …
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
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-…
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 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 …
discovery sample of 101,069 individuals and a replication sample of 25,490. Three …