The human phenotype ontology in 2017
Deep phenotyping has been defined as the precise and comprehensive analysis of
phenotypic abnormalities in which the individual components of the phenotype are observed …
phenotypic abnormalities in which the individual components of the phenotype are observed …
MalaCards: an amalgamated human disease compendium with diverse clinical and genetic annotation and structured search
N Rappaport, M Twik, I Plaschkes, R Nudel… - Nucleic acids …, 2017 - academic.oup.com
The MalaCards human disease database (http://www. malacards. org/) is an integrated
compendium of annotated diseases mined from 68 data sources. MalaCards has a web card …
compendium of annotated diseases mined from 68 data sources. MalaCards has a web card …
The genecards suite
The GeneCards® database of human genes was launched in 1997 and has expanded
since then to encompass gene-centric, disease-centric, and pathway-centric entities and …
since then to encompass gene-centric, disease-centric, and pathway-centric entities and …
The GeneCards suite: from gene data mining to disease genome sequence analyses
G Stelzer, N Rosen, I Plaschkes… - Current protocols in …, 2016 - Wiley Online Library
GeneCards, the human gene compendium, enables researchers to effectively navigate and
inter‐relate the wide universe of human genes, diseases, variants, proteins, cells, and …
inter‐relate the wide universe of human genes, diseases, variants, proteins, cells, and …
DisGeNET: a discovery platform for the dynamical exploration of human diseases and their genes
DisGeNET is a comprehensive discovery platform designed to address a variety of
questions concerning the genetic underpinning of human diseases. DisGeNET contains …
questions concerning the genetic underpinning of human diseases. DisGeNET contains …
Genome-wide analysis of somatic noncoding mutation patterns in cancer
We established a genome-wide compendium of somatic mutation events in 3949 whole
cancer genomes representing 19 tumor types. Protein-coding events captured well …
cancer genomes representing 19 tumor types. Protein-coding events captured well …
[PDF][PDF] The human phenotype ontology in 2017
Deep phenotyping has been defined as the precise and comprehensive analysis of
phenotypic abnormalities in which the individual components of the phenotype are observed …
phenotypic abnormalities in which the individual components of the phenotype are observed …
Uremic toxin indoxyl sulfate promotes proinflammatory macrophage activation via the interplay of OATP2B1 and Dll4-Notch signaling: Potential mechanism for …
T Nakano, S Katsuki, M Chen, JL Decano, A Halu… - Circulation, 2019 - Am Heart Assoc
Background: Chronic kidney disease (CKD) increases cardiovascular risk. Underlying
mechanisms, however, remain obscure. The uremic toxin indoxyl sulfate is an independent …
mechanisms, however, remain obscure. The uremic toxin indoxyl sulfate is an independent …
GeneAnalytics: an integrative gene set analysis tool for next generation sequencing, RNAseq and microarray data
S Ben-Ari Fuchs, I Lieder, G Stelzer… - Omics: a journal of …, 2016 - liebertpub.com
Postgenomics data are produced in large volumes by life sciences and clinical applications
of novel omics diagnostics and therapeutics for precision medicine. To move from “data-to …
of novel omics diagnostics and therapeutics for precision medicine. To move from “data-to …
VarElect: the phenotype-based variation prioritizer of the GeneCards Suite
Background Next generation sequencing (NGS) provides a key technology for deciphering
the genetic underpinnings of human diseases. Typical NGS analyses of a patient depict tens …
the genetic underpinnings of human diseases. Typical NGS analyses of a patient depict tens …