itemprop=description content=A group of authors reviewed the progress and challenges in annotating the human genome, including protein-coding genes, isoforms, and non-coding RNAs, and advocated for a universal annotation standard for clinical use.
By Vijay Kumar MalesuOct 5 2023Reviewed by Danielle Ellis, B.Sc. In a recent review published in Nature, a group of authors reviewed the progress and challenges in annotating the human genome, including protein-coding genes, isoforms, and non-coding ribonucleic acids , and advocated for a universal annotation standard for clinical use.
Evolving estimates on gene count After sequencing the DNA, the original mission was to document every protein-coding gene, with initial estimates ranging from 50,000 to 100,000 genes. This number gradually narrowed to just under 20,000 today, with some databases suggesting even fewer. The continuous refinement in the count is attributed to technological advances, rigorous review, and enhanced data quality.
Functional determination and challenges While the roles of protein-coding genes are more readily understood, defining the functions of lncRNAs requires experimental evidence, often obtained from studies that perturb these lncRNAs and observe the resulting molecular phenotypes. However, delineating function in lncRNAs is more intricate due to their intricate mechanisms and association with retrotransposons.
Towards functional annotation of ncRNAs While protein-coding genes benefit from extensive functional evidence and predictive computational methods, ncRNAs remain largely enigmatic. Current goals include documenting evidence supporting ncRNA presence, even if their function remains uncertain.
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