Výsledky vyhledávání - "O. Isaac Garcia-Salinas"

VCF/Plotein: visualization and prioritization of genomic variants from human exome sequencing projects

Autor: Raul Ossio, David J. Adams, Jair S. García-Sotelo, O. Isaac Garcia-Salinas, Luis A. Aguilar, Diego Said Anaya-Mancilla, Carla Daniela Robles-Espinoza

Publikováno v: Bioinformatics

Motivation Identifying disease-causing variants from exome sequencing projects remains a challenging task that often requires bioinformatics expertise. Here we describe a user-friendly graphical application that allows medical professionals and bench

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3e6bd2649cc26833106f3ebbf65bc91
http://europepmc.org/articles/PMC6853650

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VCF/Plotein: A web application to facilitate the clinical interpretation of genetic and genomic variants from exome sequencing projects

Autor: O. Isaac Garcia-Salinas, Luis A. Aguilar, Diego Said Anaya-Mancilla, David J. Adams, Carla Daniela Robles-Espinoza, Raul Ossio, Jair S. García-Sotelo

PurposeTo create a user-friendly web application that allows researchers, medical professionals and patients to easily and securely view, filter and interact with human exome sequencing data in the Variant Call Format (VCF).MethodsWe have created VCF

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b51c0f18e436ff2bf0bb980974ffca0

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