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Initial sequencing and analysis of the human genome.
The results of an international collaboration to produce and make freely available a draft sequence of the human genome are reported and an initial analysis is presented, describing some of the insights that can be gleaned from the sequence.
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
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 are reported, providing convincing evidence that the genome is pervasively transcribed, such that the majority of its bases can be found in primary transcripts.
The ENCODE (ENCyclopedia Of DNA Elements) Project
The ENCyclopedia Of DNA Elements (ENCODE) Project is organized as an international consortium of computational and laboratory-based scientists working to develop and apply high-throughput approaches for detecting all sequence elements that confer biological function.
The COSMIC Cancer Gene Census: describing genetic dysfunction across all human cancers
- Z. Sondka, S. Bamford, C. Cole, S. Ward, I. Dunham, S. Forbes
- BiologyNature Reviews Cancer
- 6 October 2018
The 2018 Catalogue of Somatic Mutations in Cancer (COSMIC) Cancer Gene Census (CGC) is discussed, an expert-curated description of human cancer genes, which has recently been expanded to include functional descriptions of how each gene contributes to cancer.
An integrated encyclopedia of DNA elements in the human genome
Panel C shows several SNPs associated with Crohn’s disease and other inflammatory diseases that reside in a large gene desert on chromosome 5, along with some epigenetic features suggestive of function.
A User's Guide to the Encyclopedia of DNA Elements (ENCODE)
An overview of the project and the resources it is generating and the application of ENCODE data to interpret the human genome are provided.
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy
A novel gene, EPM2A, is identified at chromosome 6q24 that encodes a protein with consensus amino acid sequence indicative of a protein tyrosine phosphatase (PTP) that is predicted to cause deleterious effects in the putative protein product, named laforin, resulting in Lafora's disease.
An anthropoid-specific locus of orphan C to U RNA-editing enzymes on chromosome 22.
Tissue-specific expression of these genes in a variety of cell lines, along with other evidence, suggests a role for these enzymes in growth or cell cycle control, and similarity in amino acid sequence with APOBEC1, conserved intron/exon organization, tissue- specific expression, homodimerization, and zinc and RNA binding similar to APOB EC1 is concluded.
The DNA sequence of human chromosome 22
The sequence of the euchromatic part of human chromosome 22 is reported, which consists of 12 contiguous segments spanning 33.4 megabases, contains at least 545 genes and 134 pseudogenes, and provides the first view of the complex chromosomal landscapes that will be found in the rest of the genome.
Integrative annotation of chromatin elements from ENCODE data
- M. M. Hoffman, J. Ernst, William Stafford Noble
- Computer Science, BiologyNucleic acids research
- 5 December 2012
These methods rediscover and summarize diverse aspects of chromatin architecture, elucidate the interplay between chromatin activity and RNA transcription, and reveal that a large proportion of the genome lies in a quiescent state, even across multiple cell types.