Plasma proteomic associations with genetics and health in the UK Biobank

Proteogenomic links to human metabolic diseases

(2023) Mine Koprulu et al.   Nature Metabolism

A genome-wide association study of serum proteins reveals shared loci with common diseases

(2022) Alexander Gudjonsson et al.   Nature Communications

An optimal variant to gene distance window derived from an empirical definition of cis and trans protein QTLs

(2022) Eric B. Fauman et al.   BMC BIOINFORMATICS

Plasma proteome analyses in individuals of European and African ancestry identify cis-pQTLs and models for proteome-wide association studies

(2022) Jingning Zhang et al.   NATURE GENETICS

Stability and reproducibility of proteomic profiles in epidemiological studies: comparing the Olink and SOMAscan platforms

(2022) Danielle E. Haslam et al.   PROTEOMICS

Proteomic profiling platforms head to head: Leveraging genetics and clinical traits to compare aptamer- and antibody-based methods

(2022) Daniel H. Katz et al.   Science Advances

Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect

(2021) Rafik Tadros et al.   NATURE GENETICS

A fast and efficient colocalization algorithm for identifying shared genetic risk factors across multiple traits

(2021) Christopher N. Foley et al.   Nature Communications

Metabolic biomarker profiling for identification of susceptibility to severe pneumonia and COVID-19 in the general population

(2021) et al.   eLife

Computationally efficient whole-genome regression for quantitative and binary traits

(2021) Joelle Mbatchou et al.   NATURE GENETICS

Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank

(2021) Joseph D. Szustakowski et al.   NATURE GENETICS

Advancing the use of genome-wide association studies for drug repurposing

(2021) William R. Reay et al.   NATURE REVIEWS GENETICS

Polygenic Risk Score–Enhanced Risk Stratification of Coronary Artery Disease in Patients With Stable Chest Pain

(2021) Morten Krogh Christiansen et al.   Circulation-Genomic and Precision Medicine

Large-scale integration of the plasma proteome with genetics and disease

(2021) Egil Ferkingstad et al.   NATURE GENETICS

Mapping the proteo-genomic convergence of human diseases

(2021) Maik Pietzner et al.   SCIENCE

Synergistic insights into human health from aptamer- and antibody-based proteomic profiling

(2021) Maik Pietzner et al.   Nature Communications

Genetically Determined ABO Blood Group and its Associations With Health and Disease

(2020) Hilde E. Groot et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

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

(2020) Konrad J. Karczewski et al.   NATURE

Comparison of Proteomic Assessment Methods in Multiple Cohort Studies

(2020) Laura M. Raffield et al.   PROTEOMICS

The UK Biobank imaging enhancement of 100,000 participants: rationale, data collection, management and future directions

(2020) Thomas J. Littlejohns et al.   Nature Communications

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

Genetic drug target validation using Mendelian randomisation

(2020) Amand F. Schmidt et al.   Nature Communications

Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations

(2020) Ming-Huei Chen et al.   CELL

The Polygenic and Monogenic Basis of Blood Traits and Diseases

(2020) Dragana Vuckovic et al.   CELL

Genetics meets proteomics: perspectives for large population-based studies

(2020) Karsten Suhre et al.   NATURE REVIEWS GENETICS

The GTEx Consortium atlas of genetic regulatory effects across human tissues

(2020)   SCIENCE

The Missing Diversity in Human Genetic Studies

(2019) Giorgio Sirugo et al.   CELL

BNP and NT-proBNP as Diagnostic Biomarkers for Cardiac Dysfunction in Both Clinical and Forensic Medicine

(2019) Cao et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Phenotypes associated with genes encoding drug targets are predictive of clinical trial side effects

(2019) Phuong A. Nguyen et al.   Nature Communications

The advantages of UK Biobank's open‐access strategy for health research

(2019) M. Conroy et al.   JOURNAL OF INTERNAL MEDICINE

Are drug targets with genetic support twice as likely to be approved? Revised estimates of the impact of genetic support for drug mechanisms on the probability of drug approval

(2019) Emily A. King et al.   PLoS Genetics

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

(2018) Gibran Hemani et al.   eLife

Genomic atlas of the human plasma proteome

(2018) Benjamin B. Sun et al.   NATURE

Co-regulatory networks of human serum proteins link genetics to disease

(2018) Valur Emilsson et al.   SCIENCE

TissueEnrich: Tissue-specific gene enrichment analysis

(2018) Ashish Jain et al.   BIOINFORMATICS

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

An atlas of genetic associations in UK Biobank

(2018) Oriol Canela-Xandri et al.   NATURE GENETICS

Overexpression of the Cytokine BAFF and Autoimmunity Risk

(2017) Maristella Steri et al.   NEW ENGLAND JOURNAL OF MEDICINE

The druggable genome and support for target identification and validation in drug development

(2017) Chris Finan et al.   Science Translational Medicine

Quantitative proteomics screen identifies a substrate repertoire of rhomboid protease RHBDL2 in human cells and implicates it in epithelial homeostasis

(2017) Nicholas Johnson et al.   Scientific Reports

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

(2016) William J. Astle et al.   CELL

HIPPIE v2.0: enhancing meaningfulness and reliability of protein–protein interaction networks

(2016) Gregorio Alanis-Lobato et al.   NUCLEIC ACIDS RESEARCH

Primary Ficolin-3 deficiency – Is it associated with increased susceptibility to infections?

(2015) Mateusz Michalski et al.   IMMUNOBIOLOGY

The support of human genetic evidence for approved drug indications

(2015) Matthew R Nelson et al.   NATURE GENETICS

LD Score regression distinguishes confounding from polygenicity in genome-wide association studies

(2015) Brendan K Bulik-Sullivan et al.   NATURE GENETICS

Tissue-based map of the human proteome

(2015) M. Uhlen et al.   SCIENCE

Second-generation PLINK: rising to the challenge of larger and richer datasets

(2015) Christopher C Chang et al.   GigaScience

Regularization Paths for Generalized Linear Models via Coordinate Descent

(2015) Jerome Friedman et al.   Journal of Statistical Software

Mannan-binding lectin-associated serine protease-2 (MASP-2) deficiency in two patients with pulmonary tuberculosis and one healthy control

(2014) Anna Sokolowska et al.   Cellular & Molecular Immunology

Interkeukin-34, a cytokine crucial for the differentiation and maintenance of tissue resident macrophages and Langerhans cells

(2014) Yaming Wang et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Strong effects of genetic and lifestyle factors on biomarker variation and use of personalized cutoffs

(2014) Stefan Enroth et al.   Nature Communications

The UCSC genome browser and associated tools

(2012) R. M. Kuhn et al.   BRIEFINGS IN BIOINFORMATICS

Serum Vaspin Concentrations Are Closely Related to Insulin Resistance, and rs77060950 atSERPINA12Genetically Defines Distinct Group with Higher Serum Levels in Japanese Population

(2012) Sanae Teshigawara et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A map of the cis-regulatory sequences in the mouse genome

(2012) Yin Shen et al.   NATURE

Estimating Glomerular Filtration Rate from Serum Creatinine and Cystatin C

(2012) Lesley A. Inker et al.   NEW ENGLAND JOURNAL OF MEDICINE

A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy

(2011) Eric Villard et al.   EUROPEAN HEART JOURNAL

H-ficolin (ficolin-3) concentrations and FCN3 gene polymorphism in neonates

(2011) Mateusz Michalski et al.   IMMUNOBIOLOGY

Pancreatic Cancer Risk and ABO Blood Group Alleles: Results from the Pancreatic Cancer Cohort Consortium

(2010) B. M. Wolpin et al.   CANCER RESEARCH

Congenital H-ficolin deficiency in premature infants with severe necrotising enterocolitis

(2010) L. J. Schlapbach et al.   GUT

Identification of the key structural motifs involved in HspB8/HspB6–Bag3 interaction

(2009) Margit Fuchs et al.   BIOCHEMICAL JOURNAL

Mannan-binding lectin-associated serine protease-2 (MASP-2) in a large cohort of neonates and its clinical associations

(2009) Anna St. Swierzko et al.   MOLECULAR IMMUNOLOGY

A Genome-Wide Association Study Identifies Protein Quantitative Trait Loci (pQTLs)

(2008) David Melzer et al.   PLoS Genetics

Novel Association of ABO Histo-Blood Group Antigen with Soluble ICAM-1: Results of a Genome-Wide Association Study of 6,578 Women

(2008) Guillaume Paré et al.   PLoS Genetics