[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 serine/threonine kinase gene defective in Peutz–Jeghers syndrome

A Hemminki, D Markie, I Tomlinson, E Avizienyte… - Nature, 1998 - nature.com
Studies of hereditary cancer syndromes have contributed greatly to our understanding of
molecular events involved in tumorigenesis. Here we investigate the molecular background …

Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses

A Okbay, BML Baselmans, JE De Neve, P Turley… - Nature …, 2016 - nature.com
Very few genetic variants have been associated with depression and neuroticism, likely
because of limitations on sample size in previous studies. Subjective well-being, a …

Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use

M Liu, Y Jiang, R Wedow, Y Li, DM Brazel, F Chen… - Nature …, 2019 - nature.com
Tobacco and alcohol use are leading causes of mortality that influence risk for many
complex diseases and disorders. They are heritable, and etiologically related, behaviors that …

Genome-wide association study identifies 74 loci associated with educational attainment

A Okbay, JP Beauchamp, MA Fontana, JJ Lee, TH Pers… - Nature, 2016 - nature.com
Educational attainment is strongly influenced by social and other environmental factors, but
genetic factors are estimated to account for at least 20% of the variation across individuals 1 …

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 …

[HTML][HTML] Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function

G Davies, M Lam, SE Harris, JW Trampush… - Nature …, 2018 - nature.com
General cognitive function is a prominent and relatively stable human trait that is associated
with many important life outcomes. We combine cognitive and genetic data from the …

Population-based molecular detection of hereditary nonpolyposis colorectal cancer

R Salovaara, A Loukola, P Kristo… - Journal of Clinical …, 2000 - ascopubs.org
PURPOSE: Cancer morbidity and mortality can be dramatically reduced by colonoscopic
screening of individuals with the hereditary nonpolyposis colorectal cancer (HNPCC) …

Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders

RK Walters, R Polimanti, EC Johnson… - Nature …, 2018 - nature.com
Liability to alcohol dependence (AD) is heritable, but little is known about its complex
polygenic architecture or its genetic relationship with other disorders. To discover loci …

[HTML][HTML] A large-scale genome-wide association study meta-analysis of cannabis use disorder

EC Johnson, D Demontis, TE Thorgeirsson… - The Lancet …, 2020 - thelancet.com
Background Variation in liability to cannabis use disorder has a strong genetic component
(estimated twin and family heritability about 50–70%) and is associated with negative …