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123VCF has been developed to make the filtration step of VCF files efficient and more importantly easy to understand.
It can be used in the most important step of whole exome/genome sequencing data analysis in the research and also clinical settings.
User manual:
https://dl.adbioinformatics.net/123VCF/123VCF_Manual.ver2.pdf
If you use 123VCF, please cite its paper:
Eidi, M., Abdolalizadeh, S., Moeini, S. et al. 123VCF: an intuitive and efficient tool for filtering VCF files. BMC Bioinformatics 25, 68 (2024). https://doi.org/10.1186/s12859-024-05661-5
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Authors: Milad Eidi, Samaneh Abdolalizadeh, Soheila Moeini
Supervisors: Javad Zahiri, PhD - Masoud Garshasbi, PhD
Department of Neuroscience, University of California San Diego, California, USA
Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran
Features
- Graphical user interface
- Easy-to-use
- Easy-to-understand
- Compressed or non-compressed VCF files as input
- Passed variants present in VCF format, and Tab-separated format
- 123VCF puts the same BED feature variants next to each other in a TSV file when the user defines a BED filter to detect possible compound heterozygous variants
- CLI added to be more reproducible
Project Samples
