PulseExploreJournal ClubDebatesTrendingResearchersJournals
Instagram
HomeExploreJournal ClubTrending
Synapse
⌘+K
Synapse
September 1, 2012Genome Research5,100 citationsOpen Access

GENCODE: The reference human genome annotation for The ENCODE Project

View Full Paper
JHJennifer HarrowAFAdam FrankishJGJosé M. González

Key Points

  • The aim is to comprehensively annotate all gene features in the human genome.
  • Used computational analysis, manual annotation, and experimental validation.
  • Examined transcript annotation completeness using data from CAGE clusters and mass spectrometry.
  • Derived new models from RNA-seq data identifying new gene loci.
  • GENCODE 7 includes 20,687 protein-coding and 9640 long noncoding RNA loci.
  • 35% of transcriptional start sites are supported by CAGE clusters; 62% of protein-coding genes have annotated polyA sites.
  • Identified 3689 new loci, with 3127 possibly being unannotated long noncoding loci.

Abstract

The GENCODE Consortium aims to identify all gene features in the human genome using a combination of computational analysis, manual annotation, and experimental validation. Since the first public release of this annotation data set, few new protein-coding loci have been added, yet the number of alternative splicing transcripts annotated has steadily increased. The GENCODE 7 release contains 20,687 protein-coding and 9640 long noncoding RNA loci and has 33,977 coding transcripts not represented in UCSC genes and RefSeq. It also has the most comprehensive annotation of long noncoding RNA (lncRNA) loci publicly available with the predominant transcript form consisting of two exons. We have examined the completeness of the transcript annotation and found that 35% of transcriptional start sites are supported by CAGE clusters and 62% of protein-coding genes have annotated polyA sites. Over one-third of GENCODE protein-coding genes are supported by peptide hits derived from mass spectrometry spectra submitted to Peptide Atlas. New models derived from the Illumina Body Map 2.0 RNA-seq data identify 3689 new loci not currently in GENCODE, of which 3127 consist of two exon models indicating that they are possibly unannotated long noncoding loci. GENCODE 7 is publicly available from gencodegenes.org and via the Ensembl and UCSC Genome Browsers.

Ask AI
Helpful
Bookmark
Share
View Full Paper

Cite This Study

Harrow et al. (2012) studied this question.

synapsesocial.com/papers/69dca85698c6111533e535f9https://doi.org/10.1101/gr.135350.111
Ask AI
Helpful
Bookmark
Share
View Full Paper