SCI-VCF: a cross-platform GUI solution to summarize, compare, inspect and visualize the variant call format.

Published in: NAR genomics and bioinformatics (2024)

As genomics advances swiftly and its applications extend to diverse fields, bioinformatics tools must enable researchers and clinicians to work with genomic data irrespective of their programming expertise. We developed SCI-VCF, a Shiny-based comprehensive analysis utility to summarize, compare, inspect, analyse and design interactive visualizations of the genetic variants from the variant call format. With an intuitive graphical user interface, SCI-VCF aims to bridge the approachability gap in genomics that arises from the existing predominantly command-line utilities. SCI-VCF is written in R and is freely available at https://doi.org/10.5281/zenodo.11453080. For installation-free access, users can avail themselves of an online version at https://ibse.shinyapps.io/sci-vcf-online.

Keyphrases

spinal cord injury
single cell
social media
palliative care
high throughput
health information
machine learning
big data
copy number
dna methylation
solid state