Renal compartment–specific genetic variation analyses identify new pathways in chronic kidney disease

Single-cell transcriptomics of the mouse kidney reveals potential cellular targets of kidney disease

(2018) Jihwan Park et al.   SCIENCE

An eQTL Landscape of Kidney Tissue in Human Nephrotic Syndrome

(2018) Christopher E. Gillies et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Chronic Kidney Disease

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Genetic effects on gene expression across human tissues

(2017) François Aguet et al.   NATURE

Ancient selection for derived alleles at a GDF5 enhancer influencing human growth and osteoarthritis risk

(2017) Terence D Capellini et al.   NATURE GENETICS

Polygenic burdens on cell-specific pathways underlie the risk of rheumatoid arthritis

(2017) Kazuyoshi Ishigaki et al.   NATURE GENETICS

Annotation-free quantification of RNA splicing using LeafCutter

(2017) Yang I. Li et al.   NATURE GENETICS

Parkinson-associated risk variant in distal enhancer of α-synuclein modulates target gene expression

(2016) Frank Soldner et al.   NATURE

Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome

(2016) Daniela A Braun et al.   NATURE GENETICS

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

(2016) Zhihong Zhu et al.   NATURE GENETICS

Developing and evaluating polygenic risk prediction models for stratified disease prevention

(2016) Nilanjan Chatterjee et al.   NATURE REVIEWS GENETICS

Dissecting the genetics of complex traits using summary association statistics

(2016) Bogdan Pasaniuc et al.   NATURE REVIEWS GENETICS

Developmental signalling pathways in renal fibrosis: the roles of Notch, Wnt and Hedgehog

(2016) Maria Edeling et al.   Nature Reviews Nephrology

TGF-β: the master regulator of fibrosis

(2016) Xiao-ming Meng et al.   Nature Reviews Nephrology

The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)

(2016) Jacqueline MacArthur et al.   NUCLEIC ACIDS RESEARCH

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

(2016) Cristian Pattaro et al.   Nature Communications

Fast and efficient QTL mapper for thousands of molecular phenotypes

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Deep Sequencing in Microdissected Renal Tubules Identifies Nephron Segment-Specific Transcriptomes

(2015) J. W. Lee et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

Understanding multicellular function and disease with human tissue-specific networks

(2015) Casey S Greene et al.   NATURE GENETICS

Pharmacological targeting of actin-dependent dynamin oligomerization ameliorates chronic kidney disease in diverse animal models

(2015) Mario Schiffer et al.   NATURE MEDICINE

Robust enumeration of cell subsets from tissue expression profiles

(2015) Aaron M Newman et al.   NATURE METHODS

Spotlight on CKD deaths—increasing mortality worldwide

(2015) Connie M. Rhee et al.   Nature Reviews Nephrology

Progression to Stage 4 chronic kidney disease and death, acute kidney injury and hospitalization risk: a retrospective cohort study

(2015) Maneesh Sud et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

FTO Obesity Variant Circuitry and Adipocyte Browning in Humans

(2015) Melina Claussnitzer et al.   NEW ENGLAND JOURNAL OF MEDICINE

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

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Tissue-based map of the human proteome

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

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Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation

(2014) Malcolm F. Howard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

HTSeq--a Python framework to work with high-throughput sequencing data

(2014) S. Anders et al.   BIOINFORMATICS

Shroom3contributes to the maintenance of the glomerular filtration barrier integrity

(2014) Nan Cher Yeo et al.   GENOME RESEARCH

Molecular mechanisms of diabetic kidney disease

(2014) Kimberly Reidy et al.   JOURNAL OF CLINICAL INVESTIGATION

The Proximal Tubule and Albuminuria: Really!

(2014) L. E. Dickson et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome

(2014) Kálmán Tory et al.   NATURE GENETICS

The contribution of genetic variants to disease depends on the ruler

(2014) John S. Witte et al.   NATURE REVIEWS 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

Autophagy protects kidney proximal tubule epithelial cells from mitochondrial metabolic stress

(2013) Tomonori Kimura et al.   Autophagy

Differential requirement for Dab2 in the development of embryonic and extra-embryonic tissues

(2013) Robert Moore et al.   BMC DEVELOPMENTAL BIOLOGY

Evolving importance of kidney disease: from subspecialty to global health burden

(2013) Kai-Uwe Eckardt et al.   LANCET

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

Systematic identification of trans eQTLs as putative drivers of known disease associations

(2013) Harm-Jan Westra et al.   NATURE GENETICS

Common noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression

(2013) Matteo Trudu et al.   NATURE MEDICINE

Effectively Identifying eQTLs from Multiple Tissues by Combining Mixed Model and Meta-analytic Approaches

(2013) Jae Hoon Sul et al.   PLoS Genetics

Matrix eQTL: ultra fast eQTL analysis via large matrix operations

(2012) A. A. Shabalin   BIOINFORMATICS

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

GENCODE: The reference human genome annotation for The ENCODE Project

(2012) J. Harrow et al.   GENOME RESEARCH

TGF- 1-Containing Exosomes from Injured Epithelial Cells Activate Fibroblasts to Initiate Tissue Regenerative Responses and Fibrosis

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An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

Meta-analysis identifies multiple loci associated with kidney function–related traits in east Asian populations

(2012) Yukinori Okada et al.   NATURE GENETICS

Genetics of gene expression in primary immune cells identifies cell type–specific master regulators and roles of HLA alleles

(2012) Benjamin P Fairfax et al.   NATURE GENETICS

Chromatin marks identify critical cell types for fine mapping complex trait variants

(2012) Gosia Trynka et al.   NATURE GENETICS

ChromHMM: automating chromatin-state discovery and characterization

(2012) Jason Ernst et al.   NATURE METHODS

Using probabilistic estimation of expression residuals (PEER) to obtain increased power and interpretability of gene expression analyses

(2012) Oliver Stegle et al.   Nature Protocols

Random-Effects Model Aimed at Discovering Associations in Meta-Analysis of Genome-wide Association Studies

(2011) Buhm Han et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A linear complexity phasing method for thousands of genomes

(2011) Olivier Delaneau et al.   NATURE METHODS

Genotype Imputation with Thousands of Genomes

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Integrating Human and Rodent Data to Identify the Genetic Factors Involved in Chronic Kidney Disease

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From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus

(2010) Kiran Musunuru et al.   NATURE

The NIH Roadmap Epigenomics Mapping Consortium

(2010) Bradley E Bernstein et al.   NATURE BIOTECHNOLOGY

New loci associated with kidney function and chronic kidney disease

(2010) Anna Köttgen et al.   NATURE GENETICS

Candidate Causal Regulatory Effects by Integration of Expression QTLs with Complex Trait Genetic Associations

(2010) Alexandra C. Nica et al.   PLoS Genetics

Multiple loci associated with indices of renal function and chronic kidney disease

(2009) Anna Köttgen et al.   NATURE GENETICS

A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies

(2009) Bryan N. Howie et al.   PLoS Genetics