TY - JOUR A1 - Harrow, Jennifer A1 - Frankish, Adam A1 - Gonzalez, Jose M. A1 - Tapanari, Electra A1 - Diekhans, Mark A1 - Kokocinski, Felix A1 - Aken, Bronwen L. A1 - Barrell, Daniel A1 - Zadissa, Amonida A1 - Searle, Stephen A1 - Barnes, If A1 - Bignell, Alexandra A1 - Boychenko, Veronika A1 - Hunt, Toby A1 - Kay, Mike A1 - Mukherjee, Gaurab A1 - Rajan, Jeena A1 - Despacio-Reyes, Gloria A1 - Saunders, Gary A1 - Steward, Charles A1 - Harte, Rachel A1 - Lin, Michael A1 - Howald, Cédric A1 - Tanzer, Andrea A1 - Derrien, Thomas A1 - Chrast, Jacqueline A1 - Walters, Nathalie A1 - Balasubramanian, Suganthi A1 - Pei, Baikang A1 - Tress, Michael A1 - Rodriguez, Jose Manuel A1 - Ezkurdia, Iakes A1 - van Baren, Jeltje A1 - Brent, Michael A1 - Haussler, David A1 - Kellis, Manolis A1 - Valencia, Alfonso A1 - Reymond, Alexandre A1 - Gerstein, Mark A1 - Guigó, Roderic A1 - Hubbard, Tim J. T1 - GENCODE: The reference human genome annotation for The ENCODE Project Y1 - 2012/09/01 JF - Genome Research JO - Genome Research SP - 1760 EP - 1774 DO - 10.1101/gr.135350.111 VL - 22 IS - 9 UR - http://genome.cshlp.org/content/22/9/1760.abstract N2 - 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. ER -