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Understanding the known unknowns of human gene annotation

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Wellcome Trust Sanger Institute Blog

25th November 2013
by Jonathan Mudge
The Human Genome Project was a starting point, not a finishing line. These three billion DNA letters will only be useful once we understand what they are telling us.

The Human and Vertebrate Analysis and Annotation (HAVANA) team at the Wellcome Trust Sanger Institute have spent ten years describing the gene content of the genome and last year we completed our first pass chromosome-by-chromosome annotation of all human chromosomes. Together with Ensembl, we contributed the GENCODE gene annotation set to the human ENCODE project. Nonetheless, our work continues. Indeed, there are times when it seems we are climbing an endless mountain, with its summit hidden behind the clouds.

There are two reasons why. Firstly, one bitter-sweet reward of next-generation sequencing is that the number of human RNAs (or ‘transcripts’) identified continues to increase, making the genome something of a moving target from an annotators…

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