HUPAN

HUPAN constructs comprehensive human pan-genomes by integrating multiple individual genomes to capture population- and individual-specific genomic sequences absent from the GRCh38 reference.

Key Features:

• Pan-Genome Construction: Integrates data from multiple individual genomes and assembled sequences to assemble a human pan-genome that extends beyond the GRCh38 reference.
• Large-Scale Genome Analysis Capability: Scales to handle extensive datasets involving hundreds of genomes and was developed as an improvement over EUPAN to address the size and complexity of human genomes.
• Novel Sequence and Gene Detection: Detects sequences and genes not present in GRCh38, exemplified by identification of approximately 29.5 Mb of novel genomic sequences and at least 188 previously uncharacterized protein-coding genes in a study of 185 deep sequencing and 90 assembled Han Chinese genomes.

Scientific Applications:

• Population Genomics: Enables characterization of population-specific genomic variation and discovery of genomic regions absent from the reference.
• Disease and Trait Association Studies: Facilitates investigation of population-specific traits and disease susceptibilities by providing a more complete set of genomic sequences.
• Cancer Genomics and Biomedical Research: Serves as a resource for detecting novel genetic elements relevant to cancer genomics and other biomedical studies.

Methodology:

Integrates deep sequencing analysis and assembled genomes to construct a pan-genome and detect novel sequences and protein-coding genes, employing an improved strategy optimized for the scale and complexity of human genomic datasets.