The HuRef Browser: a web resource for individual human genomics

Area of Science:

• Genomics
• Bioinformatics
• Human Genetics

Background:

• The Human Reference Genome (HuRef) provides a unique genome assembly for an individual human.
• Understanding individual genetic variation is crucial for personalized medicine and biological research.

Purpose of the Study:

• To introduce the HuRef Genome Browser, a web application for navigating and analyzing the HuRef genome.
• To enable comparative analysis between the HuRef assembly and the NCBI human reference sequence.
• To facilitate the study of individual human genetic variation in a diploid context.

Main Methods:

• Development of a web-based genome browser (HuRef Genome Browser).
• Integration of HuRef genome assembly with NCBI and Ensembl annotations.
• Visualization of genetic variations including SNPs, indels, inversions, and structural/copy-number variations.

Main Results:

• The HuRef Genome Browser allows comparative viewing of the HuRef and NCBI human reference genomes.
• It displays various genetic variations within the context of functional annotations.
• Full access to underlying sequence reads, quality information, and assembly data is provided.

Conclusions:

• The HuRef Genome Browser is a versatile tool for exploring genome assemblies.
• It enhances the understanding of individual human genetic variation.
• The browser supports detailed analysis of DNA polymorphisms and genome structure.