Article
UniVar: A variant interpretation platform enhancing rare disease diagnosis through robust filtering and unified analysis of SNV, INDEL, CNV and SV.
Computers in biology and medicine - 1 Feb 2025
Au-Yeung Cherie C Y, Cheung Yuen-Ting, Cheng Joshua Y T, Ip Ken W H, Lee Sau-Dan, Yang Victor Y T, Lau Amy Y T, Lee Chit K C, Chong Peter K H, Lau King Wai, van Lunenburg Jurgen T J, Zheng Damon F D, Ho Brian H M, Tik Crystal, Ho Kingsley K K, Rajaby Ramesh, Au Chun-Hang, Yu Mullin H C, Sung Wing-Kin
Abstract excerpt
BACKGROUND: Interpreting the pathogenicity of genetic variants associated with rare diseases is a laborious and time-consuming endeavour. To streamline the diagnostic process and lighten the burden of variant interpretation, it is crucial to automate variant annotation and prioritization. Unfortunately, currently available variant interpretation tools lack a unified and comprehensive workflow that can...
Topics
- Humans
- Rare Diseases
- DNA Copy Number Variations
- Software
- INDEL Mutation
- Polymorphism, Single Nucleotide