GENCODE: the reference human genome annotation for The ENCODE Project

Jennifer Harrow, Adam Frankish, Jose M Gonzalez, Electra Tapanari, Mark Diekhans, Felix Kokocinski, Bronwen L Aken, Daniel Barrell, Amonida Zadissa, Stephen Searle, If Barnes, Alexandra Bignell, Veronika Boychenko, Toby Hunt, Mike Kay, Gaurab Mukherjee, Jeena Rajan, Gloria Despacio-Reyes, Gary Saunders, Charles StewardRachel Harte, Michael Lin, Cédric Howald, Andrea Tanzer, Thomas Derrien, Jacqueline Chrast, Nathalie Walters, Suganthi Balasubramanian, Baikang Pei, Michael Tress, Jose Manuel Rodriguez, Iakes Ezkurdia, Jeltje van Baren, Michael Brent, David Haussler, Manolis Kellis, Alfonso Valencia, Alexandre Reymond, Mark Gerstein, Roderic Guigó, Tim J Hubbard

Research output: Contribution to journalArticlepeer-review

3290 Citations (Scopus)

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.
Original languageEnglish
Pages (from-to)1760-1774
Number of pages15
JournalGenome Research
Volume22
Issue number9
DOIs
Publication statusPublished - Sept 2012

Keywords

  • Animals
  • Computational Biology
  • DNA, Complementary
  • Databases, Genetic
  • Evolution, Molecular
  • Exons
  • Genetic Loci
  • Genome, Human
  • Genomics
  • Humans
  • Internet
  • Models, Molecular
  • Molecular Sequence Annotation
  • Open Reading Frames
  • Pseudogenes
  • Quality Control
  • RNA Splice Sites
  • RNA, Long Untranslated
  • Reproducibility of Results
  • Untranslated Regions

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