FinnGen provides genetic insights from a well-phenotyped isolated population

Keywords

Genome-wide association studyMinor allele frequencyBiobankGeneticsGenetic associationBiologyAllelePopulationAllele frequencyPhenomeMendelian inheritanceGenomeSingle-nucleotide polymorphismMedicineGenotypeGeneEnvironmental health

Affiliated Institutions

Related Publications

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

Slavé Petrovski , Quanli Wang , Erin L. Heinzen +2 more

A central challenge in interpreting personal genomes is determining which mutations most likely influence disease. Although progress has been made in scoring the functional impa...

2013 PLoS Genetics 975 citations

Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing

Yali Xue , Yuan Chen , Qasim Ayub +8 more

We have assessed the numbers of potentially deleterious variants in the genomes of apparently healthy humans by using (1) low-coverage whole-genome sequence data from 179 indivi...

2012 The American Journal of Human Genetics 277 citations

Worldwide Human Relationships Inferred from Genome-Wide Patterns of Variation

Jun Z. Li , Devin M. Absher , Hua Tang +8 more

Human genetic diversity is shaped by both demographic and biological factors and has fundamental implications for understanding the genetic basis of diseases. We studied 938 unr...

2008 Science 2041 citations

The MR-Base platform supports systematic causal inference across the human phenome

Gibran Hemani , Jie Zheng , Benjamin Elsworth +17 more

Results from genome-wide association studies (GWAS) can be used to infer causal relationships between phenotypes, using a strategy known as 2-sample Mendelian randomization (2SM...

2018 eLife 7706 citations

Identification and Analysis of Error Types in High-Throughput Genotyping

Kelly R. Ewen , Melanie Bahlo , Susan A. Treloar +4 more

2000 The American Journal of Human Genetics 196 citations

Publication Info

Year: 2023
Type: article
Volume: 613
Issue: 7944
Pages: 508-518
Citations: 3465
Access: Closed

External Links

View on DOI.org

Social Impact

Altmetric

FinnGen provides genetic insights from a well-phenotyped isolated population

PlumX Metrics

Social media, news, blog, policy document mentions

Citation Metrics

3465

OpenAlex

Cite This

APA Style

                            
                                
                                    Mitja Kurki, 
                                
                                    Juha Karjalainen, 
                                
                                    Priit Palta
                                
                                et al.
                            
                            (2023). 
                            FinnGen provides genetic insights from a well-phenotyped isolated population. 
                            Nature
                            , 613
                            (7944)
                            , 508-518.
                            https://doi.org/10.1038/s41586-022-05473-8
                        

Identifiers

DOI: 10.1038/s41586-022-05473-8