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- Publications
- Influence
Initial sequencing and analysis of the human genome.
The human genome holds an extraordinary trove of information about human development, physiology, medicine and evolution. Here we report the results of an international collaboration to produce and… Expand
The genome sequence of Drosophila melanogaster.
- M. Adams, S. Celniker, +192 authors J. Venter
- Biology, Medicine
- Science
- 24 March 2000
The fly Drosophila melanogaster is one of the most intensively studied organisms in biology and serves as a model system for the investigation of many developmental and cellular processes common to… Expand
Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes.
- A. Siepel, G. Bejerano, +13 authors D. Haussler
- Biology, Medicine
- Genome research
- 1 August 2005
We have conducted a comprehensive search for conserved elements in vertebrate genomes, using genome-wide multiple alignments of five vertebrate species (human, mouse, rat, chicken, and Fugu… Expand
A second generation human haplotype map of over 3.1 million SNPs
- K. Frazer, D. Ballinger, +234 authors J. Stewart
- Biology, Medicine
- Nature
- 18 October 2007
We describe the Phase II HapMap, which characterizes over 3.1 million human single nucleotide polymorphisms (SNPs) genotyped in 270 individuals from four geographically diverse populations and… Expand
Structure, Function and Diversity of the Healthy Human Microbiome
- C. Huttenhower, D. Gevers, +245 authors O. White
- Biology, Medicine
- Nature
- 17 May 2012
Studies of the human microbiome have revealed that even healthy individuals differ remarkably in the microbes that occupy habitats such as the gut, skin and vagina. Much of this diversity remains… Expand
Integrated Genomic Analyses of Ovarian Carcinoma
- D. Bell, A. Berchuck, +259 authors E. Thomson
- Biology, Medicine
- Nature
- 1 June 2011
A catalogue of molecular aberrations that cause ovarian cancer is critical for developing and deploying therapies that will improve patients’ lives. The Cancer Genome Atlas project has analysed… Expand
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
Somatic mutations affect key pathways in lung adenocarcinoma
Determining the genetic basis of cancer requires comprehensive analyses of large collections of histopathologically well-classified primary tumours. Here we report the results of a collaborative… Expand
Comprehensive genomic characterization defines human glioblastoma genes and core pathways
- R. McLendon, A. Friedman, +231 authors Elizabeth L. Thomson
- Biology, Medicine
- Nature
- 4 September 2008
Human cancer cells typically harbour multiple chromosomal aberrations, nucleotide substitutions and epigenetic modifications that drive malignant transformation. The Cancer Genome Atlas (TCGA) pilot… Expand
The complete genome of an individual by massively parallel DNA sequencing
- D. Wheeler, M. Srinivasan, +24 authors J. M. Rothberg
- Biology, Medicine
- Nature
- 17 April 2008
The association of genetic variation with disease and drug response, and improvements in nucleic acid technologies, have given great optimism for the impact of ‘genomic medicine’. However, the… Expand