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MalaCards: an amalgamated human disease compendium with diverse clinical and genetic annotation and structured search

Noa Rappaport, Michal Twik, Inbar Plaschkes, Ron Nudel, Tsippi Iny Stein, Jacob Levitt, Moran Gershoni, C. Paul Morrey, Marilyn Safran, Doron Lancet
2016 Nucleic Acids Research  
The MalaCards human disease database (http://www. malacards.org/) is an integrated compendium of annotated diseases mined from 68 data sources.  ...  International Classification of Diseases, Human Phenotype Ontology and Unified Medical Language System) and also contains information about multi-level relations among diseases, thereby providing an optimal  ...  The authors also thank MalaCards users for their feedback and support and the anonymous reviewersfor their valuable comments and suggestions.  ... 
doi:10.1093/nar/gkw1012 pmid:27899610 pmcid:PMC5210521 fatcat:gc65doqdurcxrdfs4fbqhanxbi

MalaCards: an integrated compendium for diseases and their annotation

Noa Rappaport, Noam Nativ, Gil Stelzer, Michal Twik, Yaron Guan-Golan, Tsippi Iny Stein, Iris Bahir, Frida Belinky, C. Paul Morrey, Marilyn Safran, Doron Lancet
2013 Database: The Journal of Biological Databases and Curation  
MalaCards: an integrated compendium for diseases and their annotation.  ...  Warshawsky and A.  ...  Rinon for helpful discussions and ideas. .............................................................................................................................................................  ... 
doi:10.1093/database/bat018 pmid:23584832 pmcid:PMC3625956 fatcat:ju462m3cezgqtkai2jjrdvatuq

Rational confederation of genes and diseases: NGS interpretation via GeneCards, MalaCards and VarElect

Noa Rappaport, Simon Fishilevich, Ron Nudel, Michal Twik, Frida Belinky, Inbar Plaschkes, Tsippi Iny Stein, Dana Cohen, Danit Oz-Levi, Marilyn Safran, Doron Lancet
2017 BioMedical Engineering OnLine  
The GeneCards suite databases, which include GeneCards (human genes), MalaCards (human diseases) and PathCards (human pathways) together with additional tools, are presented with the focus on MalaCards  ...  A key challenge in the realm of human disease research is next generation sequencing (NGS) interpretation, whereby identified filtered variant-harboring genes are associated with a patient's disease phenotypes  ...  The authors would also like to thank MalaCards users for their feedback and support.  ... 
doi:10.1186/s12938-017-0359-2 pmid:28830434 pmcid:PMC5568599 fatcat:nr5iblpqh5bn5glqnrgelrdehm

Rates of molecular evolution predict intraspecies genetic diversity [article]

Jiaqi Wu, Takahiro Yonezawa, Hirohisa Kishino
2019 bioRxiv   pre-print
Because the evolution of modern humans from early mammals has been a continuous process, human genetic diversity at the molecular level should reflect mammalian genetic diversity.  ...  Further analysis of human singleton and de novo mutations suggested that natural selection begins shaping intraspecies genetic diversity soon after a mutation's initial appearance.  ...  MalaCards: an amalgamated human disease compendium with diverse clinical and genetic annotation and structured search. Nucleic Acids Res. 2017;45(D1):D877-D87.  ... 
doi:10.1101/846824 fatcat:w4exmdo6mnhfjok56bfl2iwc7u

Barcode Sequencing and a High-throughput Assay for Chronological Lifespan Uncover Ageing-associated Genes in Fission Yeast [article]

Catalina A. Romila, StJohn Townsend, Michal Malecki, Stephan Kamrad, María Rodríguez-López, Olivia Hillson, Cristina Cotobal, Markus Ralser, Jürg Bähler
2021 bioRxiv   pre-print
The ageing-associated genes showed coherent enrichments in processes also associated with human ageing, particularly with respect to ageing in non-proliferative brain cells.  ...  This study provides an effective methodological platform and identifies many new ageing-associated genes as a framework for analysing cellular ageing in yeast and beyond.  ...  MalaCards: an amalgamated human disease compendium with diverse clinical and genetic annotation and structured search. Nucleic Acids Res. 45(D1): D877-D887. doi: 10.1093/nar/gkw1012.  ... 
doi:10.1101/2021.03.04.433786 fatcat:lsvxwjbdtnaw5amry5asvadhr4

Whole genome sequencing identifies putative associations between genomic polymorphisms and clinical response to the antiepileptic drug levetiracetam [article]

DV Vavoulis, AT Pagnamenta, SJL Knight, MM Pentony, M Armstrong, EC Galizia, S Balestrini, SM Sisodiya, JC Taylor
2019 arXiv   pre-print
clinical response to levetiracetam in our cohort with ~91% predictive accuracy.  ...  , in an unbiased manner.  ...  MalaCards: an amalgamated human disease compendium with diverse clinical and genetic annotation and struc- tured search.  ... 
arXiv:1909.10580v1 fatcat:5ccpllasefae7hx37yfyja2g4i