Allows visualization, filtering and interaction with human exome sequencing data in the variant call format (VCF). VCF/Plotein aims to facilitate the clinical interpretation of genetic and genomic variants from exome sequencing projects. The software can load files from exome sequencing projects for displaying variants falling in any chosen transcript from any gene. It can be used by patients to explore their own genetic information, by biologists whose projects involve exome sequencing or by medical professionals studying a particular disease.
Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Querétaro, Mexico; Experimental Cancer Genetics, Wellcome Sanger Institute, Hinxton Cambridge, UK
VCF/Plotein funding source(s)
Supported by the Wellcome Trust [204562/Z/16/Z] and Cancer Research UK and Programa de Apoyo a Proyectos de Investigación e Innovación Tecnológica (PAPIIT UNAM) [IA200318, including an undergraduate scholarship, and IA206817] and CONACyT [scholarship no. 573128].