Standout Papers
Citation Impact
Citing Papers
The mystery of missing heritability: Genetic interactions create phantom heritability
2012
Infrared molecular fingerprinting of blood-based liquid biopsies for the detection of cancer
2021 StandoutNobel
The MR-Base platform supports systematic causal inference across the human phenome
2018 Standout
A survey of best practices for RNA-seq data analysis
2016 Standout
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis
2013 Standout
Y-chromosome E haplogroups: their distribution and implication to the origin of Afro-Asiatic languages and pastoralism
2014
Efficient and precise single-cell reference atlas mapping with Symphony
2021
Impact of diagnostic misclassification on estimation of genetic correlations using genome-wide genotypes
2012
Longitudinal, genome-scale analysis of DNA methylation in twins from birth to 18 months of age reveals rapid epigenetic change in early life and pair-specific effects of discordance
2013
DNA methylation age of human tissues and cell types
2013 Standout
An integrated map of genetic variation from 1,092 human genomes
2012 StandoutNature
Mendelian Randomization Analysis Identifies CpG Sites as Putative Mediators for Genetic Influences on Cardiovascular Disease Risk
2017
Genetic pleiotropy in complex traits and diseases: implications for genomic medicine
2016
Long COVID: major findings, mechanisms and recommendations
2023 Standout
An Expanded View of Complex Traits: From Polygenic to Omnigenic
2017 Standout
Benefits and limitations of genome-wide association studies
2019
The Role of the Paratrigeminal Nucleus in Vagal Afferent Evoked Respiratory Reflexes: A Neuroanatomical and Functional Study in Guinea Pigs
2015
Systematic identification of genetic influences on methylation across the human life course
2016
The continuing value of twin studies in the omics era
2012
Limited statistical evidence for shared genetic effects of eQTLs and autoimmune-disease-associated loci in three major immune-cell types
2017
Genetic effects on gene expression across human tissues
2017 StandoutNature
Rewiring of the Fruit Metabolome in Tomato Breeding
2018 Standout
Scrublet: Computational Identification of Cell Doublets in Single-Cell Transcriptomic Data
2019
Leveraging Polygenic Functional Enrichment to Improve GWAS Power
2018 Standout
Elucidating the genetic architecture of reproductive ageing in the Japanese population
2018
Genetic and environmental exposures constrain epigenetic drift over the human life course
2014
Changes in Lipidome Composition during Brain Development in Humans, Chimpanzees, and Macaque Monkeys
2017 StandoutNobel
Single-Tissue and Cross-Tissue Heritability of Gene Expression Via Identity-by-Descent in Related or Unrelated Individuals
2011
Multi-omics approaches to disease
2017
Hallmarks of aging: An expanding universe
2023 Standout
Effective gene expression prediction from sequence by integrating long-range interactions
2021 StandoutNobel
Bayesian Test for Colocalisation between Pairs of Genetic Association Studies Using Summary Statistics
2014 Standout
Inflammaging: a new immune–metabolic viewpoint for age-related diseases
2018 Standout
Mechanisms and disease consequences of nonalcoholic fatty liver disease
2021
Five Years of GWAS Discovery
2012 Standout
The role of regulatory variation in complex traits and disease
2015
A genome-wide scan for signatures of differential artificial selection in ten cattle breeds
2013
Making sense of GWAS: using epigenomics and genome engineering to understand the functional relevance of SNPs in non-coding regions of the human genome
2015
Reading Mendelian randomisation studies: a guide, glossary, and checklist for clinicians
2018 Standout
LD Score regression distinguishes confounding from polygenicity in genome-wide association studies
2015 Standout
Functionally informed fine-mapping and polygenic localization of complex trait heritability
2020
Cis and Trans Effects of Human Genomic Variants on Gene Expression
2014
Genetic architecture of epigenetic and neuronal ageing rates in human brain regions
2017
The single-cell transcriptional landscape of mammalian organogenesis
2019 StandoutNature
Mendelian randomization: genetic anchors for causal inference in epidemiological studies
2014 Standout
Quantification of frequency-dependent genetic architectures in 25 UK Biobank traits reveals action of negative selection
2019
From promises to practical strategies in epigenetic epidemiology
2013
Dissecting the genetics of the human transcriptome identifies novel trait-relatedtrans-eQTLs and corroborates the regulatory relevance of non-protein coding loci
2015
A role of PIEZO1 in iron metabolism in mice and humans
2021 StandoutNobel
Multimodal biomedical AI
2022 Standout
Drug repurposing: progress, challenges and recommendations
2018 Standout
A Statistical Framework for Joint eQTL Analysis in Multiple Tissues
2013
Genetic regulation of gene expression in the epileptic human hippocampus
2017
Acute respiratory distress syndrome
2019 Standout
Dynamics of DNA Methylation in Recent Human and Great Ape Evolution
2013
Novel translational approaches to the search for precision therapies for acute respiratory distress syndrome
2017
Ultra-high-throughput single-cell RNA sequencing and perturbation screening with combinatorial fluidic indexing
2021
Dictionary learning for integrative, multimodal and scalable single-cell analysis
2023 Standout
Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights
2018
Functional mapping and annotation of genetic associations with FUMA
2017 Standout
A guide to deep learning in healthcare
2018 Standout
Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases
2018 Standout
The Geography of Recent Genetic Ancestry across Europe
2013
Dissecting the genetics of complex traits using summary association statistics
2016
DNA methylation-based biomarkers and the epigenetic clock theory of ageing
2018 Standout
Blood-Informative Transcripts Define Nine Common Axes of Peripheral Blood Gene Expression
2013
10 Years of GWAS Discovery: Biology, Function, and Translation
2017 Standout
Ulcerative colitis
2020 Standout
Modelling local gene networks increases power to detect trans-acting genetic effects on gene expression
2016
Immuno-proteomic profiling reveals aberrant immune cell regulation in the airways of individuals with ongoing post-COVID-19 respiratory disease
2022
Integrative Modeling of eQTLs and Cis-Regulatory Elements Suggests Mechanisms Underlying Cell Type Specificity of eQTLs
2013
Pleiotropic Effects of Trait-Associated Genetic Variation on DNA Methylation: Utility for Refining GWAS Loci
2017
Selection Signatures in Worldwide Sheep Populations
2014 Standout
Field-resolved infrared spectroscopy of biological systems
2020 StandoutNatureNobel
Piezo2 senses airway stretch and mediates lung inflation-induced apnoea
2016 StandoutNatureNobel
Shared genetic effects on chromatin and gene expression indicate a role for enhancer priming in immune response
2018
Comprehensive Integration of Single-Cell Data
2019 Standout
A global overview of pleiotropy and genetic architecture in complex traits
2019
Inflammation in obesity, diabetes, and related disorders
2022 Standout
Global Properties and Functional Complexity of Human Gene Regulatory Variation
2013
Orienting the causal relationship between imprecisely measured traits using GWAS summary data
2017
Recent Developments in Mendelian Randomization Studies
2017
MicroRNA-Driven Developmental Remodeling in the Brain Distinguishes Humans from Other Primates
2011 StandoutNobel
Meta-analysis of genome-wide association studies for height and body mass index in ∼700000 individuals of European ancestry
2018
F ifty Y ears of R esearch in ARDS.Genomic Contributions and Opportunities
2017
AASLD Practice Guidance on the clinical assessment and management of nonalcoholic fatty liver disease
2023 Standout
CADD: predicting the deleteriousness of variants throughout the human genome
2018 Standout
A Fibrosis‐Independent Hepatic Transcriptomic Signature Identifies Drivers of Disease Progression in Primary Sclerosing Cholangitis
2020 StandoutNobel
PERSONALIZED MEDICINE: FROM GENOTYPES, MOLECULAR PHENOTYPES AND THE QUANTIFIED SELF, TOWARDS IMPROVED MEDICINE
2014
Genome-Wide Association in Tomato Reveals 44 Candidate Loci for Fruit Metabolic Traits
2014
Ancient Ethiopian genome reveals extensive Eurasian admixture in Eastern Africa
2015 StandoutScience
The Neandertal Progesterone Receptor
2020 StandoutNobel
Reconstructing the DNA Methylation Maps of the Neandertal and the Denisovan
2014 StandoutScienceNobel
Excavating Neandertal and Denisovan DNA from the genomes of Melanesian individuals
2016 StandoutScienceNobel
Genome-wide association studies
2021
Endometriosis
2020 Standout
Demographic History and Genetic Adaptation in the Himalayan Region Inferred from Genome-Wide SNP Genotypes of 49 Populations
2018
Endometriosis
2018
From genome-wide association studies to Mendelian randomization: novel opportunities for understanding cardiovascular disease causality, pathogenesis, prevention, and treatment
2018
Genome-wide data substantiate Holocene gene flow from India to Australia
2013
Works of Joseph E. Powell being referenced
Contribution of genetic variation to transgenerational inheritance of DNA methylation
2014
Signatures of negative selection in the genetic architecture of human complex traits
2018
Genotype-free demultiplexing of pooled single-cell RNA-seq
2019
Human population dispersal “Out of Africa” estimated from linkage disequilibrium and allele frequencies of SNPs
2011
Shared genetic control of expression and methylation in peripheral blood
2016
Endometriosis risk alleles at 1p36.12 act through inverse regulation ofCDC42andLINC00339
2016
Optimal use of regression models in genome‐wide association studies
2011
The Brisbane Systems Genetics Study: Genetical Genomics Meets Complex Trait Genetics
2012
Neonatal DNA methylation profile in human twins is specified by a complex interplay between intrauterine environmental and genetic factors, subject to tissue-specific influence
2012
Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets
2016 Standout
Genetic control of gene expression in whole blood and lymphoblastoid cell lines is largely independent
2011
Expression quantitative trait locus analysis for translational medicine
2015
scPred: accurate supervised method for cell-type classification from single-cell RNA-seq data
2019
Hepatic expression profiling identifies steatosis-independent and steatosis-driven advanced fibrosis genes
2018
Congruence of Additive and Non-Additive Effects on Gene Expression Estimated from Pedigree and SNP Data
2013
Reconciling the analysis of IBD and IBS in complex trait studies
2010
Distinct Brainstem and Forebrain Circuits Receiving Tracheal Sensory Neuron Inputs Revealed Using a Novel Conditional Anterograde Transsynaptic Viral Tracing System
2015
The single-cell eQTLGen consortium
2020
Dynamics of human monocytes and airway macrophages during healthy aging and after transplant
2020
Genetic and Nongenetic Variation Revealed for the Principal Components of Human Gene Expression
2013
The genetic regulation of transcription in human endometrial tissue
2017