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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...
Autores principales: | Rappaport, Noa, Fishilevich, Simon, Nudel, Ron, Twik, Michal, Belinky, Frida, Plaschkes, Inbar, Stein, Tsippi Iny, Cohen, Dana, Oz-Levi, Danit, Safran, Marilyn, Lancet, Doron |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5568599/ https://www.ncbi.nlm.nih.gov/pubmed/28830434 http://dx.doi.org/10.1186/s12938-017-0359-2 |
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