Unraveling Genetic Complexity: Integrative Approaches in Variant Interpretation
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Bioinformatics".
Deadline for manuscript submissions: 15 September 2024 | Viewed by 86
Special Issue Editor
Special Issue Information
Dear Colleagues,
Recent advancements in next-generation sequencing have revolutionized our ability to comprehensively characterize molecular information at an unprecedented scale. While these technological breakthroughs offer remarkable opportunities, they also underscore the critical need for rapid and accurate interpretation of the vast array of genetic variations observed. This special issue aims to delve deeper into the intricate landscape of genetic variation and its implications for human health and disease, focusing on detailed characterization at multiple levels, including alleles, genes, macromolecular complexes, and signaling cascades. Furthermore, we seek to explore the comprehensive profiles of tissue- or cell-specific features, shedding light on the context-dependent nature of genetic variation. Leveraging innovative systems biology approaches that integrate multi-modality data across transcriptomes, epigenomes, and genome editing holds immense promise in elucidating the underlying genetic mechanisms driving human diseases and uncovering actionable insights with clinical relevance. We invite submissions that contribute to our understanding of genetic variations. Studies that integrate meaningful information from diverse data sources or address the challenges associated with variant interpretation through experimental advancements, statistical methodologies, or computational techniques are particularly relevant.
Dr. Xiao Fan
Guest Editor
Manuscript Submission Information
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Keywords
- genetic variation interpretation
- multi-modality data integration
- systems biology approach
- genetic mechanism
- human genetic diseases
