Publications by authors named "Tsippi Iny Stein"

The GeneCaRNA human gene database is a member of the GeneCards Suite. It presents ~280,000 human non-coding RNA genes, identified algorithmically from ~690,000 RNAcentral transcripts. This expands by ~tenfold the ncRNA gene count relative to other sources.

View Article and Find Full Text PDF

Non-coding RNA (ncRNA) genes assume increasing biological importance, with growing associations with diseases. Many ncRNA sources are transcript-centric, but for non-coding variant analysis and disease decipherment it is essential to transform this information into a comprehensive set of genome-mapped ncRNA genes. We present GeneCaRNA, a new all-inclusive gene-centric ncRNA database within the GeneCards Suite.

View Article and Find Full Text PDF
Article Synopsis
  • The clinical genetics revolution is transforming how genomes are analyzed to identify important genetic variations linked to patient symptoms, but it also presents challenges in interpreting non-coding variants.
  • TGex is an innovative platform that specializes in genome variation analysis, with advanced capabilities for exome analysis and a unique approach to non-coding variant interpretation.
  • Its strengths include a powerful variant filtering system, extensive data resources through VarElect and GeneCards, a user-friendly interface, ACMG compliance, and impressive diagnostic results, demonstrating high yields in identifying actionable genetic information for rare diseases.
View Article and Find Full Text PDF
Article Synopsis
  • Next-generation sequencing (NGS) interpretation is a major challenge in human disease research, requiring bioinformatics tools like those from the GeneCards suite to link genetic variants to disease phenotypes.
  • VarElect, an NGS interpretation tool, utilizes the comprehensive data from GeneCards and MalaCards to unify disease annotations and establish connections between genes and diseases, featuring a well-curated network of 4500 genes affecting 8000 diseases.
  • Ongoing enhancements include the addition of "disease SuperPaths", which will help identify novel relationships between genes and diseases, further advancing the utility of NGS tools in biomedical research.
View Article and Find Full Text PDF

Unlabelled: A major challenge in understanding gene regulation is the unequivocal identification of enhancer elements and uncovering their connections to genes. We present GeneHancer, a novel database of human enhancers and their inferred target genes, in the framework of GeneCards. First, we integrated a total of 434 000 reported enhancers from four different genome-wide databases: the Encyclopedia of DNA Elements (ENCODE), the Ensembl regulatory build, the functional annotation of the mammalian genome (FANTOM) project and the VISTA Enhancer Browser.

View Article and Find Full Text PDF

The MalaCards human disease database (http://www.malacards.org/) is an integrated compendium of annotated diseases mined from 68 data sources.

View Article and Find Full Text PDF

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 of thousands non-reference coding variants, but only one or very few are expected to be significant for the relevant disorder. In a filtering stage, one employs family segregation, rarity in the population, predicted protein impact and evolutionary conservation as a means for shortening the variation list.

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

GeneCards is a one-stop shop for searchable human gene annotations (http://www.genecards.org/).

View Article and Find Full Text PDF

The study of biological pathways is key to a large number of systems analyses. However, many relevant tools consider a limited number of pathway sources, missing out on many genes and gene-to-gene connections. Simply pooling several pathways sources would result in redundancy and the lack of systematic pathway interrelations.

View Article and Find Full Text PDF
Article Synopsis
  • Systems medicine enhances our understanding of human diseases and accelerates better diagnostics and drug development through comprehensive resources like MalaCards.
  • MalaCards is a curated database of over 19,000 human diseases, integrating data from 64 sources and utilizing advanced data-mining techniques similar to GeneCards.
  • It features a user-friendly interface with detailed disease information, including related genes and publications, and provides protocols for efficient searching and browsing.
View Article and Find Full Text PDF
Article Synopsis
  • Comprehensive disease classification and integration are essential for advancing biomedical research, yet existing disease compilations are often incomplete and inconsistent.
  • MalaCards is a new integrated database that consolidates information about 16,919 human diseases, using data from 44 sources and following a similar model to the GeneCards database for genes.
  • The database not only provides detailed disease annotations but also explores interconnections between diseases, facilitating better understanding and research opportunities in the biomedical field.
View Article and Find Full Text PDF

Motivation: Non-coding RNA (ncRNA) genes are increasingly acknowledged for their importance in the human genome. However, there is no comprehensive non-redundant database for all such human genes.

Results: We leveraged the effective platform of GeneCards, the human gene compendium, together with the power of fRNAdb and additional primary sources, to judiciously unify all ncRNA gene entries obtainable from 15 different primary sources.

View Article and Find Full Text PDF

Since 1998, the bioinformatics, systems biology, genomics and medical communities have enjoyed a synergistic relationship with the GeneCards database of human genes (http://www.genecards.org).

View Article and Find Full Text PDF

GeneCards (www.genecards.org) is a comprehensive, authoritative compendium of annotative information about human genes, widely used for nearly 15 years.

View Article and Find Full Text PDF

Sophisticated genomic navigation strongly benefits from a capacity to establish a similarity metric among genes. GeneDecks is a novel analysis tool that provides such a metric by highlighting shared descriptors between pairs of genes, based on the rich annotation within the GeneCards compendium of human genes. The current implementation addresses information about pathways, protein domains, Gene Ontology (GO) terms, mouse phenotypes, mRNA expression patterns, disorders, drug relationships, and sequence-based paralogy.

View Article and Find Full Text PDF

Motivation: High density oligonucleotide arrays are usually annotated in a one-to-one fashion, with each probeset assigned to one gene. However, in reality, subsets of oligonucleotides in a probeset may match sequences within more than one gene, potentially leading to misinterpretations. Moreover, a gene is often represented by more than one probeset, and analyzing probe matches at the mRNA level can help one deduce whether these probesets are derived from the same or different splice variants.

View Article and Find Full Text PDF