Publications by authors named "E Bruford"
Article Synopsis
- Researchers aim to better understand the protein-coding genome due to its importance in human health, while questioning what previous genomic studies may have overlooked regarding non-canonical open reading frames (ncORFs).
- Over the last ten years, ncORFs have shown potential relevance in human cell types and diseases, but their impact on the human proteome was previously unclear, prompting a collaborative effort to analyze their protein-level evidence.
- The study found that 25% of analyzed ncORFs contribute to translated proteins, resulting in over 3,000 new peptides from extensive mass spectrometry data, and established an annotation framework and public tools to support ongoing research in this area.
Rare genetic diseases affect millions, and identifying causal DNA variants is essential for patient care. Therefore, it is imperative to estimate the effect of each independent variant and improve their pathogenicity classification. Our study of 140 214 unrelated UK Biobank (UKB) participants found that each of them carries a median of 7 variants previously reported as pathogenic or likely pathogenic.
View Article and Find Full Text PDFThe Vertebrate Gene Nomenclature Committee (VGNC) was established in 2016 as a sister project to the HUGO Gene Nomenclature Committee, to approve gene nomenclature in vertebrate species without an existing dedicated nomenclature committee. The VGNC aims to harmonize gene nomenclature across selected vertebrate species in line with human gene nomenclature, with orthologs assigned the same nomenclature where possible. This article presents an overview of the VGNC project and discussion of key findings resulting from this work to date.
View Article and Find Full Text PDF