SVs

SVs reconstructs and characterizes large and complex genomic structural variants by leveraging long-fragment sequencing data such as 10x Genomics and performing sequence assembly at SV breakpoints to delineate disrupted genomic architecture.

Key Features:

• Identification of large-scale structural variants: Detects a wide range of structural variants, including large and complex events across the genome.
• Sequence assembly at breakpoints: Performs precise sequence assembly at SV breakpoints to reconstruct affected genomic sequence and architecture.
• Utilization of long-fragment information: Integrates long-fragment sequencing data from platforms like 10x Genomics to improve resolution of complex SVs.
• Integration of multiple computational methods: Applies multiple computational approaches tailored for different classes of SVs, zygosities, and size ranges.

Scientific Applications:

• Medicine and molecular biology: Enables analysis of SV contributions to genetic disorders and disease mechanisms.
• Gene expression regulation: Supports investigation of how structural variants influence gene expression patterns and regulatory elements.
• Ethnic diversity and evolutionary studies: Facilitates characterization of SVs that contribute to population genetic differences and studies of large-scale chromosome evolution.

Methodology:

Infers structural variants across the full spectrum of large and complex variations and integrates multiple computational methods tailored for different classes of SVs, zygosities, and size ranges.