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MalaCards: an amalgamated human disease compendium with diverse clinical and genetic annotation and structured search
2016
Nucleic Acids Research
Preserved Fulltext
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
2013
Database: The Journal of Biological Databases and Curation
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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
2017
BioMedical Engineering OnLine
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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]
2019
bioRxiv
pre-print
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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]
2021
bioRxiv
pre-print
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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]
2019
arXiv
pre-print
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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