Novel gene and gene model detection using a whole genome open reading frame analysis in proteomics
2006

Detecting New Genes and Proteins in the Human Genome

Sample size: 2230502 publication 10 minutes Evidence: moderate

Author Information

Author(s): Fermin Damian, Allen Baxter B, Blackwell Thomas W, Menon Rajasree, Adamski Marcin, Xu Yin, Ulintz Peter, Omenn Gilbert S, States David J

Primary Institution: University of Michigan

Hypothesis

Can high-throughput mass spectrometry data combined with a six-frame translation of the human genome identify novel protein encoding genes?

Conclusion

The study provides evidence for novel alternative splice variants in many previously annotated genes, indicating that genome annotation is still incomplete.

Supporting Evidence

  • 282 significant open reading frames were identified, each containing two or more peptide matches.
  • 627 novel peptides were associated with these open reading frames.
  • 1,682 of the intragenic peptides had exact matches to known protein products.

Takeaway

Scientists used a special method to look for new proteins in our genes, and they found many that were not previously known.

Methodology

The study used high-throughput mass spectrometry data and a six-frame translation of the human genome to identify novel protein encoding genes.

Potential Biases

The reliance on existing protein databases may limit the identification of truly novel proteins.

Limitations

The method produced a significant number of protein sequences that were unlikely to be real due to noise in the data.

Participant Demographics

Samples were pooled plasma and serum from Caucasian, African, and Asian American donors.

Statistical Information

P-Value

0.05

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1186/gb-2006-7-4-r35

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