PGG SV

PGG SV catalogs structural variants from whole-genome next-generation sequencing (NGS) and third-generation long-read sequencing to characterize population-level SV diversity and support association analyses.

Key Features:

• Extensive SV Archive: Contains 584,277 structural variants derived from whole-genome sequencing of 6,048 samples, including 1,030 long-read genomes representing 177 global populations.
• High-Quality Data with Precision: Provides fine-scale SV coordinates mapped to both GRCh37 and GRCh38 reference assemblies.
• Geographical Prevalence Estimation: Includes hierarchical estimation of SV prevalence across geographical populations.
• Informative Annotations: Annotates SV-associated genes, potential functions, and clinical effects.
• Research Facilitation Tools: Provides integrated analysis tools for SV-based case-control association studies.
• Visualization Capabilities: Offers visualization tools for interpreting complex SV structures in the genome.

Scientific Applications:

• Human Evolution: Enables analysis of structural variant patterns relevant to human evolutionary history.
• Population Genetics: Supports characterization of SV diversity and population structure across global populations.
• Disease Etiology: Facilitates investigation of structural variant contributions to disease susceptibility and clinical effects.
• Association Studies: Enables SV-based case-control association studies to identify genotype–phenotype associations.

Methodology:

Integrates whole-genome NGS and third-generation long-read sequencing data for structural variant discovery and cataloging.