Michal Twik

TL;DR: 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 and provides a stronger foundation for the GeneCards suite of companion databases and analysis tools.

TL;DR: GeneHancer is presented, a novel database of human enhancers and their inferred target genes, in the framework of GeneCards, which assists in the mapping of non-coding variants to enhancers, and via the linked genes, forms a basis for variant–phenotype interpretation of whole-genome sequences in health and disease.

TL;DR: The MalaCards human disease database is an integrated compendium of annotated diseases mined from 68 data sources and adopts a ‘flat’ disease-card approach, but each card is mapped to popular hierarchical ontologies and contains information about multi-level relations among diseases, thereby providing an optimal tool for disease representation and scrutiny.

TL;DR: This work introduces MalaCards, an integrated database of human maladies and their annotations, modeled on the architecture and strategy of the GeneCards database ofhuman genes, and suggests that this broadly disposed network has a power-law degree distribution, suggesting this might be an inherent property of such networks.

TL;DR: VarElect is described, a comprehensive phenotype-dependent variant/gene prioritizer based on the widely-used GeneCards, which helps rapidly identify causal mutations with extensive evidence, and is indispensable for emerging clinical projects that involve thousands of whole exome/genome NGS analyses.