CSEA-DB: an omnibus for human complex trait and cell type associations

CellPhoneDB: inferring cell–cell communication from combined expression of multi-subunit ligand–receptor complexes

(2020) Mirjana Efremova et al.   Nature Protocols

Diverse types of genomic evidence converge on alcohol use disorder risk genes

(2020) Yulin Dai et al.   JOURNAL OF MEDICAL GENETICS

Construction of a human cell landscape at single-cell level

(2020) Xiaoping Han et al.   NATURE

Single-cell RNA counting at allele and isoform resolution using Smart-seq3

(2020) Michael Hagemann-Jensen et al.   NATURE BIOTECHNOLOGY

A computational tool (H-MAGMA) for improved prediction of brain-disorder risk genes by incorporating brain chromatin interaction profiles

(2020) Nancy Y. A. Sey et al.   NATURE NEUROSCIENCE

Investigation of multi-trait associations using pathway-based analysis of GWAS summary statistics

(2019) Guangsheng Pei et al.   BMC GENOMICS

deTS: tissue-specific enrichment analysis to decode tissue specificity

(2019) Guangsheng Pei et al.   BIOINFORMATICS

Abundant associations with gene expression complicate GWAS follow-up

(2019) Boxiang Liu et al.   NATURE GENETICS

A Bayesian framework that integrates multi-omics data and gene networks predicts risk genes from schizophrenia GWAS data

(2019) Quan Wang et al.   NATURE NEUROSCIENCE

A Convergent Study of Genetic Variants Associated With Crohn’s Disease: Evidence From GWAS, Gene Expression, Methylation, eQTL and TWAS

(2019) Yulin Dai et al.   Frontiers in Genetics

A cellular census of human lungs identifies novel cell states in health and in asthma

(2019) Felipe A. Vieira Braga et al.   NATURE MEDICINE

Single-cell transcriptomics of the human retinal pigment epithelium and choroid in health and macular degeneration

(2019) Andrew P. Voigt et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A systematic evaluation of single cell RNA-seq analysis pipelines

(2019) Beate Vieth et al.   Nature Communications

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

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

Lung Single-Cell Signaling Interaction Map Reveals Basophil Role in Macrophage Imprinting

(2018) Merav Cohen et al.   CELL

Single-cell reconstruction of the early maternal–fetal interface in humans

(2018) Roser Vento-Tormo 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

Single cell RNA sequencing of human liver reveals distinct intrahepatic macrophage populations

(2018) Sonya A. MacParland et al.   Nature Communications

Genetic effects on gene expression across human tissues

(2017) François Aguet et al.   NATURE

Integrative single-cell analysis of transcriptional and epigenetic states in the human adult brain

(2017) Blue B Lake et al.   NATURE BIOTECHNOLOGY

The Encyclopedia of DNA elements (ENCODE): data portal update

(2017) Carrie A Davis et al.   NUCLEIC ACIDS RESEARCH

Single-Cell Transcriptome Profiling of Human Pancreatic Islets in Health and Type 2 Diabetes

(2016) Åsa Segerstolpe et al.   Cell Metabolism

Detection and interpretation of shared genetic influences on 42 human traits

(2016) Joseph K Pickrell et al.   NATURE GENETICS

The Cell Ontology 2016: enhanced content, modularization, and ontology interoperability

(2016) Alexander D. Diehl et al.   Journal of Biomedical Semantics

MAGMA: Generalized Gene-Set Analysis of GWAS Data

(2015) Christiaan A. de Leeuw et al.   PLoS Computational Biology

Full-length RNA-seq from single cells using Smart-seq2

(2014) Simone Picelli et al.   Nature Protocols

Pathology of asthma

(2013) Makoto Kudo et al.   Frontiers in Microbiology

Uberon, an integrative multi-species anatomy ontology

(2012) Christopher J Mungall et al.   GENOME BIOLOGY

The lymphatic vasculature in disease

(2011) Kari Alitalo   NATURE MEDICINE