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

BACKGROUND: 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. This necessitates bioinformatics tools linked to comprehensive knowledgebases...

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Dades bibliogràfiques
Publicat a:Biomed Eng Online
Autors principals: Rappaport, Noa, Fishilevich, Simon, Nudel, Ron, Twik, Michal, Belinky, Frida, Plaschkes, Inbar, Stein, Tsippi Iny, Cohen, Dana, Oz-Levi, Danit, Safran, Marilyn, Lancet, Doron
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2017
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5568599/
https://ncbi.nlm.nih.gov/pubmed/28830434
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12938-017-0359-2
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