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Transcriptome and genome sequencing uncovers functional variation in humans
Se sequencing and deep analysis of messenger RNA and microRNA from lymphoblastoid cell lines of 462 individuals from the 1000 Genomes Project—the first uniformly processed high-throughput RNA-sequencing data from multiple human populations with high-quality genome sequences discover extremely widespread genetic variation affecting the regulation of most genes.
Landscape of transcription in human cells
Evidence that three-quarters of the human genome is capable of being transcribed is reported, as well as observations about the range and levels of expression, localization, processing fates, regulatory regions and modifications of almost all currently annotated and thousands of previously unannotated RNAs that prompt a redefinition of the concept of a gene.
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.
Initial sequencing and comparative analysis of the mouse genome.
The results of an international collaboration to produce a high-quality draft sequence of the mouse genome are reported and an initial comparative analysis of the Mouse and human genomes is presented, describing some of the insights that can be gleaned from the two sequences.
A Whole-Genome Association Study of Major Determinants for Host Control of HIV-1
Using a whole-genome association strategy, polymorphisms that explain nearly 15% of the variation among individuals in viral load during the asymptomatic set-point period of infection are identified.
Positional cloning of the APECED gene
Results indicate that this gene is responsible for the pathogenesis of APECED, a autosomal-recessive disorder that maps to human chromosome 21q22.3 and should facilitate the genetic diagnosis and potential treatment of the disease and enhance the general understanding of the mechanisms underlying autoimmune diseases.
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.
HIV-1 Nef promotes infection by excluding SERINC5 from virion incorporation
This work identifies the host transmembrane protein SERINC5, and to a lesser extent SERINC3, as a potent inhibitor of HIV-1 particle infectivity that is counteracted by Nef.
An integrated encyclopedia of DNA elements in the human genome
The Encyclopedia of DNA Elements project provides new insights into the organization and regulation of the authors' genes and genome, and is an expansive resource of functional annotations for biomedical research.
Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution
A draft genome sequence of the red jungle fowl, Gallus gallus, provides a new perspective on vertebrate genome evolution, while also improving the annotation of mammalian genomes.