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- Publications
- Influence
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
- E. Birney, J. Stamatoyannopoulos, +308 authors P. D. de Jong
- Biology, Medicine
- Nature
- 14 June 2007
We report the generation and analysis of functional data from multiple, diverse experiments performed on a targeted 1% of the human genome as part of the pilot phase of the ENCODE Project. These data… Expand
GENCODE reference annotation for the human and mouse genomes
- A. Frankish, M. Diekhans, +52 authors P. Flicek
- Biology, Computer Science
- Nucleic Acids Res.
- 24 October 2018
TLDR
A User's Guide to the Encyclopedia of DNA Elements (ENCODE)
- R. Myers, J. Stamatoyannopoulos, +311 authors Brian A. Risk
- Biology, Medicine
- PLoS biology
- 1 April 2011
The mission of the Encyclopedia of DNA Elements (ENCODE) Project is to enable the scientific and medical communities to interpret the human genome sequence and apply it to understand human biology… Expand
GENCODE: producing a reference annotation for ENCODE
- J. Harrow, F. Denoeud, +12 authors R. Guigó
- Medicine, Biology
- Genome Biology
- 7 August 2006
BackgroundThe GENCODE consortium was formed to identify and map all protein-coding genes within the ENCODE regions. This was achieved by a combination of initial manual annotation by the HAVANA team,… Expand
A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
- D. MacArthur, S. Balasubramanian, +48 authors C. Tyler-Smith
- Biology, Medicine
- Science
- 17 February 2012
Defective Gene Detective Identifying genes that give rise to diseases is one of the major goals of sequencing human genomes. However, putative loss-of-function genes, which are often some of the… Expand
Ensembl 2018
- D. Zerbino, P. Achuthan, +54 authors P. Flicek
- Computer Science, Medicine
- Nucleic Acids Res.
- 16 November 2017
TLDR
The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes.
Effective use of the human and mouse genomes requires reliable identification of genes and their products. Although multiple public resources provide annotation, different methods are used that can… Expand
Multiple evidence strands suggest that there may be as few as 19 000 human protein-coding genes
- I. Ezkurdia, D. Juan, +6 authors M. Tress
- Biology, Medicine
- Human molecular genetics
- 16 June 2014
Determining the full complement of protein-coding genes is a key goal of genome annotation. The most powerful approach for confirming protein-coding potential is the detection of cellular protein… Expand
The GENCODE pseudogene resource
- B. Pei, Cristina Sisu, +11 authors M. Gerstein
- Biology, Medicine
- Genome Biology
- 5 September 2012
BackgroundPseudogenes have long been considered as nonfunctional genomic sequences. However, recent evidence suggests that many of them might have some form of biological activity, and the… Expand
Identification and analysis of unitary pseudogenes: historic and contemporary gene losses in humans and other primates
- Z. Zhang, A. Frankish, T. Hunt, J. Harrow, M. Gerstein
- Biology, Medicine
- Genome Biology
- 8 March 2010
BackgroundUnitary pseudogenes are a class of unprocessed pseudogenes without functioning counterparts in the genome. They constitute only a small fraction of annotated pseudogenes in the human… Expand