Beyond association: successes and challenges in linking non-coding genetic variation to functional consequences that modulate Alzheimer’s disease risk

Author Correction: Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer’s disease risk genes

(2021) Jeremy Schwartzentruber et al.   NATURE GENETICS

Interpretation of risk loci from genome-wide association studies of Alzheimer's disease

(2020) Shea J Andrews et al.   LANCET NEUROLOGY

A Multi-Omics Perspective of Quantitative Trait Loci in Precision Medicine

(2020) Youqiong Ye et al.   TRENDS IN GENETICS

Interrogation of enhancer function by enhancer-targeting CRISPR epigenetic editing

(2020) Kailong Li et al.   Nature Communications

Improving the coverage of credible sets in Bayesian genetic fine-mapping

(2020) Anna Hutchinson et al.   PLoS Computational Biology

From GWAS to Function: Using Functional Genomics to Identify the Mechanisms Underlying Complex Diseases

(2020) Eddie Cano-Gamez et al.   Frontiers in Genetics

Dementia prevention, intervention, and care: 2020 report of the Lancet Commission

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An analysis of genetically regulated gene expression across multiple tissues implicates novel gene candidates in Alzheimer’s disease

(2020) Zachary F. Gerring et al.   Alzheimers Research & Therapy

Single-cell epigenomic analyses implicate candidate causal variants at inherited risk loci for Alzheimer’s and Parkinson’s diseases

(2020) M. Ryan Corces et al.   NATURE GENETICS

Translating genetic risk of Alzheimer’s disease into mechanistic insight and drug targets

(2020) Annerieke Sierksma et al.   SCIENCE

The GTEx Consortium atlas of genetic regulatory effects across human tissues

(2020)   SCIENCE

Risk prediction of late-onset Alzheimer’s disease implies an oligogenic architecture

(2020) Qian Zhang et al.   Nature Communications

Opportunities and challenges for transcriptome-wide association studies

(2019) Michael Wainberg et al.   NATURE GENETICS

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

(2019) Brian W. Kunkle et al.   NATURE GENETICS

Abundant associations with gene expression complicate GWAS follow-up

(2019) Boxiang Liu et al.   NATURE GENETICS

Lipid-Associated Macrophages Control Metabolic Homeostasis in a Trem2-Dependent Manner

(2019) Diego Adhemar Jaitin et al.   CELL

Development of a Chimeric Model to Study and Manipulate Human Microglia In Vivo

(2019) Jonathan Hasselmann et al.   NEURON

Non-coding variability at the APOE locus contributes to the Alzheimer’s risk

(2019) Xiaopu Zhou et al.   Nature Communications

The neuropathological diagnosis of Alzheimer’s disease

(2019) Michael A. DeTure et al.   Molecular Neurodegeneration

Chromatin activity at GWAS loci identifies T cell states driving complex immune diseases

(2019) Blagoje Soskic et al.   NATURE GENETICS

Functional interpretation of genetic variants using deep learning predicts impact on chromatin accessibility and histone modification

(2019) Gabriel E Hoffman et al.   NUCLEIC ACIDS RESEARCH

Stem-cell-derived human microglia transplanted in mouse brain to study human disease

(2019) Renzo Mancuso et al.   NATURE NEUROSCIENCE

Brain cell type–specific enhancer–promoter interactome maps and disease-risk association

(2019) Alexi Nott et al.   SCIENCE

Direct Identification of Hundreds of Expression-Modulating Variants using a Multiplexed Reporter Assay

(2018) Ryan Tewhey et al.   CELL

Comparison of methods for transcriptome imputation through application to two common complex diseases

(2018) James J. Fryett et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

(2018) Hilary K. Finucane et al.   NATURE GENETICS

From genome-wide associations to candidate causal variants by statistical fine-mapping

(2018) Daniel J. Schaid et al.   NATURE REVIEWS GENETICS

OUP accepted manuscript

(2018)   NUCLEIC ACIDS RESEARCH

Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics

(2018) Alvaro N. Barbeira et al.   Nature Communications

GWAS on family history of Alzheimer’s disease

(2018) Riccardo E. Marioni et al.   Translational Psychiatry

Integrative transcriptome analyses of the aging brain implicate altered splicing in Alzheimer’s disease susceptibility

(2018) Towfique Raj et al.   NATURE GENETICS

Genetic effects on gene expression across human tissues

(2017) François Aguet et al.   NATURE

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

(2017) Rebecca Sims et al.   NATURE GENETICS

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease

(2017) Kuan-lin Huang et al.   NATURE NEUROSCIENCE

A systemic view of Alzheimer disease — insights from amyloid-β metabolism beyond the brain

(2017) Jun Wang et al.   Nature Reviews Neurology

Colocalization of GWAS and eQTL Signals Detects Target Genes

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

FINEMAP: efficient variable selection using summary data from genome-wide association studies

(2016) Christian Benner et al.   BIOINFORMATICS

Trans-ethnic study design approaches for fine-mapping

(2016) Jennifer L Asimit et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets

(2016) Zhihong Zhu et al.   NATURE GENETICS

Integrative approaches for large-scale transcriptome-wide association studies

(2016) Alexander Gusev et al.   NATURE GENETICS

HiChIP: efficient and sensitive analysis of protein-directed genome architecture

(2016) Maxwell R Mumbach et al.   NATURE METHODS

Assessment of the genetic variance of late-onset Alzheimer's disease

(2016) Perry G. Ridge et al.   NEUROBIOLOGY OF AGING

Survey of the Heritability and Sparse Architecture of Gene Expression Traits across Human Tissues

(2016) Heather E. Wheeler et al.   PLoS Genetics

Coding mutations inSORL1and Alzheimer disease

(2015) Badri N. Vardarajan et al.   ANNALS OF NEUROLOGY

Fine Mapping Causal Variants with an Approximate Bayesian Method Using Marginal Test Statistics

(2015) Wenan Chen et al.   GENETICS

The pluripotent regulatory circuitry connecting promoters to their long-range interacting elements

(2015) Stefan Schoenfelder et al.   GENOME RESEARCH

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease

(2015) Stacy Steinberg et al.   NATURE GENETICS

Partitioning heritability by functional annotation using genome-wide association summary statistics

(2015) Hilary K Finucane et al.   NATURE GENETICS

A gene-based association method for mapping traits using reference transcriptome data

(2015) Eric R Gamazon et al.   NATURE GENETICS

Predicting effects of noncoding variants with deep learning–based sequence model

(2015) Jian Zhou et al.   NATURE METHODS

Three dimensions of the amyloid hypothesis: time, space and 'wingmen'

(2015) Erik S Musiek et al.   NATURE NEUROSCIENCE

HaploReg v4: systematic mining of putative causal variants, cell types, regulators and target genes for human complex traits and disease

(2015) Lucas D. Ward et al.   NUCLEIC ACIDS RESEARCH

A review of instrumental variable estimators for Mendelian randomization

(2015) Stephen Burgess et al.   STATISTICAL METHODS IN MEDICAL RESEARCH

Fine Mapping Causal Variants with an Approximate Bayesian Method Using Marginal Test Statistics

(2015) Wenan Chen et al.   GENETICS

Identifying Causal Variants at Loci with Multiple Signals of Association

(2014) F. Hormozdiari et al.   GENETICS

Polarization of the Effects of Autoimmune and Neurodegenerative Risk Alleles in Leukocytes

(2014) T. Raj et al.   SCIENCE

Bayesian Test for Colocalisation between Pairs of Genetic Association Studies Using Summary Statistics

(2014) Claudia Giambartolomei et al.   PLoS Genetics

Integrating Functional Data to Prioritize Causal Variants in Statistical Fine-Mapping Studies

(2014) Gleb Kichaev et al.   PLoS Genetics

Identifying multiple causative genes at a single GWAS locus

(2013) M. J. Flister et al.   GENOME RESEARCH

Remodeling of the Enhancer Landscape during Macrophage Activation Is Coupled to Enhancer Transcription

(2013) Minna U. Kaikkonen et al.   MOLECULAR CELL

Genome-Wide Quantitative Enhancer Activity Maps Identified by STARR-seq

(2013) C. D. Arnold et al.   SCIENCE

Annotation of functional variation in personal genomes using RegulomeDB

(2012) A. P. Boyle et al.   GENOME RESEARCH

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

Breast cancer risk–associated SNPs modulate the affinity of chromatin for FOXA1 and alter gene expression

(2012) Richard Cowper-Sal·lari et al.   NATURE GENETICS

Variant of TREM2 Associated with the Risk of Alzheimer's Disease

(2012) Thorlakur Jonsson et al.   NEW ENGLAND JOURNAL OF MEDICINE

TREM2 Variants in Alzheimer's Disease

(2012) Rita Guerreiro et al.   NEW ENGLAND JOURNAL OF MEDICINE

Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

(2012) M. T. Maurano et al.   SCIENCE

HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants

(2011) L. D. Ward et al.   NUCLEIC ACIDS RESEARCH

African Genetic Diversity: Implications for Human Demographic History, Modern Human Origins, and Complex Disease Mapping

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