Abstract
Our understanding of the human genome has continuously expanded since its draft publication in 2001. Over the years, novel assays have allowed us to progressively overlay layers of knowledge above the raw sequence of A’s, T’s, G’s, and C’s. The reference human genome sequence is now a complex knowledge base maintained under the shared stewardship of multiple specialist communities. Its complexity stems from the fact that it is simultaneously a template for transcription, a record of evolution, a vehicle for genetics, and a functional molecule. In short, the human genome serves as a frame of reference at the intersection of a diversity of scientific fields. In recent years, the progressive fall in sequencing costs has given increasing importance to the quality of the human reference genome, as hundreds of thousands of individuals are being sequenced yearly, often for clinical applications. Also, novel sequencing-based assays shed light on novel functions of the genome, especially with respect to gene expression regulation. Keeping the human genome annotation up to date and accurate is therefore an ongoing partnership between reference annotation projects and the greater community worldwide.
Highlights
The history of the sequencing and annotation of the human genome is marked by breathtaking acceleration after a prolonged theoretical inception
This study revealed that, while the best automated annotation pipelines were broadly successful in identifying manually annotated protein-coding gene loci, all methods failed to reproduce the manually determined transcript exon–intron structures, where alternatively spliced transcripts were identified [60]
This problem was exposed by the RNA sequencing (RNA-seq) Genome Annotation Assessment Project (RGASP) [139], a recapitulation and extension of the EGASP exercise that focused on RNA-seq data
Summary
Annu. Rev. Genom. Hum. Genet. 2020.21:55-79. Downloaded from www.annualreviews.org Access provided by 3.84.162.151 on 11/08/21. See copyright for approved use. The Annual Review of Genomics and Human Genetics is online at genom.annualreviews.org https://doi.org/10.1146/annurev-genom-121119083418
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