NCBI RefSeq: reference sequence standards through 25 years of curation and annotation

Area of Science:

• Genomics
• Bioinformatics
• Molecular Biology

Background:

• Reference sequences and annotations are fundamental for organism identification and understanding gene, transcript, and protein functions.
• Data interpretation from transcriptomics, proteomics, and sequence variation relies heavily on accurate reference gene annotations.
• These annotations drive biomedical discoveries by elucidating gene function and disease mechanisms.

Purpose of the Study:

• To summarize the current status of the eukaryotic, prokaryotic, and viral RefSeq resources.
• To highlight advancements in eukaryotic annotation and increased taxonomic representation.
• To discuss the impact of these updates on comparative genomics.

Main Methods:

• Leveraging automatic processes and expert curation to build a robust set of reference sequences.
• Refining annotation and quality control processes.
• Utilizing high-quality genomes from advanced sequencing technologies and RNA-Seq data.

Main Results:

• Production of high-quality annotated genomes and ortholog predictions across a wider range of organisms.
• Enhanced accessibility of RefSeq products through multiple NCBI resources.
• Focus on eukaryotic annotation and expanded taxonomic coverage.

Conclusions:

• The RefSeq resource provides a high-quality, comprehensive foundation for diverse biological research.
• Ongoing improvements in annotation and data quality enhance its utility for comparative genomics.
• The resource is crucial for advancing our understanding of gene function and biological systems.