Current Protocols in Bioinformatics · 2016 · 5.5K citations · 22 references
Life SciencesBioinformaticsGeneticsGenomic Data AnalysisGenomic InformaticsGenomicsGenomic Data IntegrationNext-generation SequencingVariant AnalysisVariant ClassificationVariant DetectionVariant InterpretationClinical Exome SequencingClinical Next-generation SequencingDisease Phenotype IdentificationGenotype-phenotype DatabasesNext-generation Sequencing AnalysisSequence Variant CurationUnificationVariant Annotation
GeneCards is a human gene compendium that lets researchers navigate and interrelate genes, diseases, variants, proteins, cells, and pathways. The suite unifies gene‑disease links through MalaCards, merges pathways via PathCards, adds drug and proteome data, and includes VarElect, a phenotype prioritizer that scores associations between variant genes and disease phenotypes. Version 4 delivers faster updates, more precise queries, and a friendlier interface, providing a stronger foundation for companion databases and tools such as VarElect, which supports large‑scale clinical NGS projects. © 2016 by John Wiley & Sons, Inc.
GeneCards, the human gene compendium, enables researchers to effectively navigate and inter-relate the wide universe of human genes, diseases, variants, proteins, cells, and biological pathways. Our recently launched Version 4 has a revamped infrastructure facilitating faster data updates, better-targeted data queries, and friendlier user experience. It also provides a stronger foundation for the GeneCards suite of companion databases and analysis tools. Improved data unification includes gene-disease links via MalaCards and merged biological pathways via PathCards, as well as drug information and proteome expression. VarElect, another suite member, is a phenotype prioritizer for next-generation sequencing, leveraging the GeneCards and MalaCards knowledgebase. It automatically infers direct and indirect scored associations between hundreds or even thousands of variant-containing genes and disease phenotype terms. VarElect's capabilities, either independently or within TGex, our comprehensive variant analysis pipeline, help prepare for the challenge of clinical projects that involve thousands of exome/genome NGS analyses. © 2016 by John Wiley & Sons, Inc.
22
The Genotype-Tissue Expression (GTEx) project.
GeneCards Version 3: the human gene integrator
Marilyn Safran, Irina Dalah, Jake M. Alexander et al. · Database · 2010 · 2.1K citations · Full text
Fiona Cunningham, M Ridwan Amode, Daniel Barrell et al. · Nucleic Acids Research · 2014 · 1.2K citations · Full text