John E. Collins Gene Annotations. John E. Collins Trust Genome Campus

John E. Collins

"Jennifer L. Ashurst and John E. Collins

The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton

Cambridge CB10 1SA, United Kingdom; email: jla1@sanger.ac.uk

Key Words human genome, manual annotation, ab initio prediction

n Abstract Fifty years after the publication of DNA structure, the whole human

genome sequence will be officially finished. This achievement marks the beginning of

the task to catalogue every human gene and identify each of their function expression

patterns.

* John E. Collins *

Currently, researchers estimate that there are about 30,000 human genes

and approximately 70% of these can be automatically predicted using a combination

of ab initio and similarity-based programs.

However, to experimentally investigate every gene’s function, the research community requires a high-quality annotation of alternative splicing, pseudogenes, and promoter regions that can only be provided by

manual intervention. Manual curation of the human genome will be a long-term project as experimental data are continually produced to confirm or refine the predictions, and new features such as noncoding RNAs and enhancers have not been fully identified.

Such a highly curated human gene-set made publicly available will be a great asset for the experimental community and for future comparative genome projects."  ~ John E. Collins

Source of John E. Collins Post

http://dimer.tamu.edu/genomics/ra/03_Third_Lecture/03_Reading_for_Lecture_A.pdf

John E. Collins