4.7 Article

MecCog: a knowledge representation framework for genetic disease mechanism

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Biochemistry & Molecular Biology

PDBe-KB: a community-driven resource for structural and functional annotations

Mihaly Varadi et al.

NUCLEIC ACIDS RESEARCH (2020)

Review Biochemistry & Molecular Biology

Pathogenic Mechanisms of Somatic Mutation and Genome Mosaicism in Aging

Jan Vijg et al.

Article Biochemistry & Molecular Biology

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

Annalisa Buniello et al.

NUCLEIC ACIDS RESEARCH (2019)

Article Biochemistry & Molecular Biology

COSMIC: the Catalogue Of Somatic Mutations In Cancer

John G. Tate et al.

NUCLEIC ACIDS RESEARCH (2019)

Article Biochemistry & Molecular Biology

The Reactome Pathway Knowledgebase

Antonio Fabregat et al.

NUCLEIC ACIDS RESEARCH (2018)

Article Biochemical Research Methods

Using deep learning to model the hierarchical structure and function of a cell

Jianzhu Ma et al.

NATURE METHODS (2018)

Article Biochemistry & Molecular Biology

LitVar: a semantic search engine for linking genomic variant data in PubMed and PMC

Alexis Allot et al.

NUCLEIC ACIDS RESEARCH (2018)

Article Biochemistry & Molecular Biology

GeneMANIA update 2018

Max Franz et al.

NUCLEIC ACIDS RESEARCH (2018)

Review Neurosciences

Reconsideration of Amyloid Hypothesis and Tau Hypothesis in Alzheimer's Disease

Fuyuki Kametani et al.

FRONTIERS IN NEUROSCIENCE (2018)

Article Biochemical Research Methods

Harnessing formal concepts of biological mechanism to analyze human disease

Lindley Darden et al.

PLOS COMPUTATIONAL BIOLOGY (2018)

Article Mathematical & Computational Biology

Systems medicine disease maps: community-driven comprehensive representation of disease mechanisms

Alexander Mazein et al.

NPJ SYSTEMS BIOLOGY AND APPLICATIONS (2018)

Article Biochemistry & Molecular Biology

KEGG: new perspectives on genomes, pathways, diseases and drugs

Minoru Kanehisa et al.

NUCLEIC ACIDS RESEARCH (2017)

Editorial Material Genetics & Heredity

CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer

Malachi Griffith et al.

NATURE GENETICS (2017)

Article Multidisciplinary Sciences

Decoding disease-causing mechanisms of missense mutations from supramolecular structures

Atsushi Hijikata et al.

SCIENTIFIC REPORTS (2017)

Article Biochemistry & Molecular Biology

ClinVar: public archive of interpretations of clinically relevant variants

Melissa J. Landrum et al.

NUCLEIC ACIDS RESEARCH (2016)

Article Mathematical & Computational Biology

Nanopublications for exposing experimental data in the life-sciences: a Huntington's Disease case study

Eleni Mina et al.

JOURNAL OF BIOMEDICAL SEMANTICS (2015)

Article Biochemistry & Molecular Biology

DARPA's Big Mechanism program

Paul R. Cohen

PHYSICAL BIOLOGY (2015)

Review Biochemistry & Molecular Biology

Decoding F508del Misfolding in Cystic Fibrosis

Xiaodong Robert Wang et al.

BIOMOLECULES (2014)

Article Biochemical Research Methods

BioAssay Ontology (BAO): a semantic description of bioassays and high-throughput screening results

Ubbo Visser et al.

BMC BIOINFORMATICS (2011)

Article Biotechnology & Applied Microbiology

The Systems Biology Graphical Notation

Nicolas Le Novere et al.

NATURE BIOTECHNOLOGY (2009)

Review Immunology

Role of Nod2 in the development of Crohn's disease

Soichiro Yamamoto et al.

MICROBES AND INFECTION (2009)

Review Immunology

Collaboration between the innate immune receptors dectin-1, TLRs, and Nods

David M. Underhill

IMMUNOLOGICAL REVIEWS (2007)

Article Gastroenterology & Hepatology

Differential effects of NOD2 variants on Crohn's disease risk and phenotype in diverse populations: A metaanalysis

M Economou et al.

AMERICAN JOURNAL OF GASTROENTEROLOGY (2004)

Article Clinical Neurology

Uncertainties in the pathogenesis of adult dermatomyositis

SA Greenberg et al.

CURRENT OPINION IN NEUROLOGY (2004)

Article Biochemistry & Molecular Biology

Cytoscape: A software environment for integrated models of biomolecular interaction networks

P Shannon et al.

GENOME RESEARCH (2003)