FinnGen provides genetic insights from a well-phenotyped isolated population

Mono- and biallelic variant effects on disease at biobank scale

(2023) H. O. Heyne et al.   NATURE

Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure

(2023) Joel T. Rämö et al.   Nature Communications

Genetic associations of protein-coding variants in human disease

(2022) Benjamin B. Sun et al.   NATURE

HLA-disease association and pleiotropy landscape in over 235,000 Finns

(2022) Jarmo Ritari et al.   HUMAN IMMUNOLOGY

Inframe insertion and splice site variants in MFGE8 associate with protection against coronary atherosclerosis

(2022) Sanni E. Ruotsalainen et al.   Communications Biology

Utility of basophil activation test for predicting the outcome of wheezing in children: a pilot study

(2021) Jingyang Li et al.   BMC IMMUNOLOGY

The Role of Phospholipid Transfer Protein in the Development of Atherosclerosis

(2021) Xian-Cheng Jiang et al.   Current Atherosclerosis Reports

LAG3’s Enigmatic Mechanism of Action

(2021) Colin G. Graydon et al.   Frontiers in Immunology

Genetically regulated expression underlies cellular sensitivity to chemotherapy in diverse populations

(2021) Ashley J Mulford et al.   HUMAN MOLECULAR GENETICS

ANGPTL8 protein-truncating variant associated with lower serum triglycerides and risk of coronary disease

(2021) Pyry Helkkula et al.   PLoS Genetics

Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations

(2021) Cindy G. Boer et al.   CELL

Uniting biobank resources reveals novel genetic pathways modulating susceptibility for atopic dermatitis

(2021) Eeva Sliz et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Mapping the human genetic architecture of COVID-19

(2021)   NATURE

A compendium of uniformly processed human gene expression and splicing quantitative trait loci

(2021) Nurlan Kerimov et al.   NATURE GENETICS

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

(2021) Saori Sakaue et al.   NATURE GENETICS

A practical view of fine-mapping and gene prioritization in the post-genome-wide association era

(2020) R. V. Broekema et al.   Open Biology

Genomic prediction of alcohol-related morbidity and mortality

(2020) Tuomo Kiiskinen et al.   Translational Psychiatry

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers

(2020) Nina Mars et al.   NATURE MEDICINE

NBEAL1 controls SREBP2 processing and cholesterol metabolism and is a susceptibility locus for coronary artery disease

(2020) Christian Bindesbøll et al.   Scientific Reports

Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma

(2020) Yosuke Tanigawa et al.   PLoS Genetics

Clinical, Immunological, and Genetic Features in 49 Patients With ZAP-70 Deficiency: A Systematic Review

(2020) Niusha Sharifinejad et al.   Frontiers in Immunology

A simple new approach to variable selection in regression, with application to genetic fine mapping

(2020) Gao Wang et al.   JOURNAL OF THE ROYAL STATISTICAL SOCIETY SERIES B-STATISTICAL METHODOLOGY

Exploring and visualizing large-scale genetic associations by using PheWeb

(2020) Sarah A. Gagliano Taliun et al.   NATURE GENETICS

Prioritization of causal genes for coronary artery disease based on cumulative evidence from experimental and in silico studies

(2020) Alexandra S. Shadrina et al.   Scientific Reports

Genetic analysis of obstructive sleep apnoea discovers a strong association with cardiometabolic health

(2020) Satu Strausz et al.   EUROPEAN RESPIRATORY JOURNAL

Open Targets Platform: supporting systematic drug–target identification and prioritisation

(2020) David Ochoa et al.   NUCLEIC ACIDS RESEARCH

HHIPL1 , a Gene at the 14q32 Coronary Artery Disease Locus, Positively Regulates Hedgehog Signaling and Promotes Atherosclerosis

(2019) Dimitra Aravani et al.   CIRCULATION

The TM6SF2 E167K genetic variant induces lipid biosynthesis and reduces apolipoprotein B secretion in human hepatic 3D spheroids

(2019) Sebastian Prill et al.   Scientific Reports

Novel variants in Nordic patients referred for genetic testing of telomere-related disorders

(2018) Anna Norberg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies

(2018) Wei Zhou et al.   NATURE GENETICS

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

(2018) Annalisa Buniello et al.   NUCLEIC ACIDS RESEARCH

Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel

(2017) Mario Mitt et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Hepatic Tm6sf2 overexpression affects cellular ApoB-trafficking, plasma lipid levels, hepatic steatosis and atherosclerosis

(2017) Nicole Ehrhardt et al.   HUMAN MOLECULAR GENETICS

Novel association of TM6SF2 rs58542926 genotype with increased serum tyrosine levels and decreased apoB-100 particles in Finns

(2017) Daniel Seung Kim et al.   JOURNAL OF LIPID RESEARCH

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

Fine-Scale Genetic Structure in Finland

(2017) Sini Kerminen et al.   G3-Genes Genomes Genetics

Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease

(2017) Pim van der Harst et al.   CIRCULATION RESEARCH

Colocalization of GWAS and eQTL Signals Detects Target Genes

(2016) Farhad Hormozdiari et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The emerging role of the tubulin code: From the tubulin molecule to neuronal function and disease

(2016) Soumyananda Chakraborti et al.   Cytoskeleton

Copy number variation analysis reveals additional variants contributing to endometriosis development

(2016) Fernanda Mafra et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort

(2016) Christoffer Löf et al.   THYROID

The dual and opposite role of theTM6SF2-rs58542926 variant in protecting against cardiovascular disease and conferring risk for nonalcoholic fatty liver: A meta-analysis

(2015) Carlos J. Pirola et al.   HEPATOLOGY

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

The impact of low-frequency and rare variants on lipid levels

(2015) Ida Surakka et al.   NATURE GENETICS

A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci for alcohol-related cirrhosis

(2015) Stephan Buch et al.   NATURE GENETICS

Searching for missing heritability: Designing rare variant association studies

(2014) O. Zuk et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population

(2014) Elaine T. Lim et al.   PLoS Genetics

Biological, clinical and population relevance of 95 loci for blood lipids

(2010) Tanya M. Teslovich et al.   NATURE