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VarElect: the phenotype-based variation prioritizer of the GeneCards Suite

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 disor...

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Detalles Bibliográficos
Autores principales: Stelzer, Gil, Plaschkes, Inbar, Oz-Levi, Danit, Alkelai, Anna, Olender, Tsviya, Zimmerman, Shahar, Twik, Michal, Belinky, Frida, Fishilevich, Simon, Nudel, Ron, Guan-Golan, Yaron, Warshawsky, David, Dahary, Dvir, Kohn, Asher, Mazor, Yaron, Kaplan, Sergey, Iny Stein, Tsippi, Baris, Hagit N., Rappaport, Noa, Safran, Marilyn, Lancet, Doron
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4928145/
https://www.ncbi.nlm.nih.gov/pubmed/27357693
http://dx.doi.org/10.1186/s12864-016-2722-2