Assessing the impact of mutations found in next generation sequencing data over human signaling pathways

Tissue-based map of the human proteome

(2015) M. Uhlen et al.   SCIENCE

Comparison of human cell signaling pathway databases—evolution, drawbacks and challenges

(2015) Saikat Chowdhury et al.   Database-The Journal of Biological Databases and Curation

Understanding disease mechanisms with models of signaling pathway activities

(2014) Patricia Sebastian-Leon et al.   BMC Systems Biology

A web-based interactive framework to assist in the prioritization of disease candidate genes in whole-exome sequencing studies

(2014) Alejandro Alemán et al.   NUCLEIC ACIDS RESEARCH

Why epistasis is important for tackling complex human disease genetics

(2014) Trudy FC Mackay et al.   Genome Medicine

Systems diagnostics: anticipating the next generation of diagnostic tests based on mechanistic insight into disease

(2013) David A. Fryburg et al.   DRUG DISCOVERY TODAY

Genomics and transcriptomics in drug discovery

(2013) Joaquin Dopazo   DRUG DISCOVERY TODAY

Sequencing studies in human genetics: design and interpretation

(2013) David B. Goldstein et al.   NATURE REVIEWS GENETICS

Pitfalls of predicting complex traits from SNPs

(2013) Naomi R. Wray et al.   NATURE REVIEWS GENETICS

Inferring the functional effect of gene expression changes in signaling pathways

(2013) Patricia Sebastián-León et al.   NUCLEIC ACIDS RESEARCH

Expression Atlas update—a database of gene and transcript expression from microarray- and sequencing-based functional genomics experiments

(2013) Robert Petryszak et al.   NUCLEIC ACIDS RESEARCH

The Reactome pathway knowledgebase

(2013) David Croft et al.   NUCLEIC ACIDS RESEARCH

Data, information, knowledge and principle: back to metabolism in KEGG

(2013) Minoru Kanehisa et al.   NUCLEIC ACIDS RESEARCH

More power via graph-structured tests for differential expression of gene networks

(2012) Laurent Jacob et al.   Annals of Applied Statistics

CellBase, a comprehensive collection of RESTful web services for retrieving relevant biological information from heterogeneous sources

(2012) M. Bleda et al.   NUCLEIC ACIDS RESEARCH

Along signal paths: an empirical gene set approach exploiting pathway topology

(2012) Paolo Martini et al.   NUCLEIC ACIDS RESEARCH

VARIANT: Command Line, Web service and Web interface for fast and accurate functional characterization of variants found by Next-Generation Sequencing

(2012) I. Medina et al.   NUCLEIC ACIDS RESEARCH

Pathway-Based Evaluation in Early Onset Colorectal Cancer Suggests Focal Adhesion and Immunosuppression along with Epithelial-Mesenchymal Transition

(2012) Seungyoon Nam et al.   PLoS One

Human Genome Sequencing in Health and Disease

(2011) Claudia Gonzaga-Jauregui et al.   Annual Review of Medicine

A sub-pathway-based approach for identifying drug response principal network

(2010) Xiujie Chen et al.   BIOINFORMATICS

Network medicine: a network-based approach to human disease

(2010) Albert-László Barabási et al.   NATURE REVIEWS GENETICS

Repeatability of published microarray gene expression analyses

(2009) John P A Ioannidis et al.   NATURE GENETICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Enabling personalized cancer medicine through analysis of gene-expression patterns

(2008) Laura J. van 't Veer et al.   NATURE