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Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
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 dataExpand
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GENCODE reference annotation for the human and mouse genomes
TLDR
The GENCODE consortium produces foundational reference genome annotation for the human and mouse genomes as well as tools and data to maintain and improve these annotations. Expand
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A User's Guide to the Encyclopedia of DNA Elements (ENCODE)
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 biologyExpand
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GENCODE: producing a reference annotation for ENCODE
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
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A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
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 theExpand
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Ensembl 2018
TLDR
We present here the latest developments of the Ensembl project, with a focus on managing an increasing number of assemblies, supporting efforts in genome interpretation and improving our browser. Expand
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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 canExpand
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Multiple evidence strands suggest that there may be as few as 19 000 human protein-coding genes
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 proteinExpand
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The GENCODE pseudogene resource
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 theExpand
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Identification and analysis of unitary pseudogenes: historic and contemporary gene losses in humans and other primates
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 humanExpand
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