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- Publications
- Influence
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
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
Integrating common and rare genetic variation in diverse human populations
- D. Altshuler, R. Gibbs, +66 authors J. Mcewen
- Biology, Medicine
- Nature
- 2 September 2010
Despite great progress in identifying genetic variants that influence human disease, most inherited risk remains unexplained. A more complete understanding requires genome-wide studies that fully… 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
Exome Sequencing of Head and Neck Squamous Cell Carcinoma Reveals Inactivating Mutations in NOTCH1
- N. Agrawal, M. Frederick, +28 authors J. Myers
- Biology, Medicine
- Science
- 26 August 2011
The mutational profile of head and neck cancer is complex and may pose challenges to the development of targeted therapies. Head and neck squamous cell carcinoma (HNSCC) is the sixth most common… Expand
Genomic analyses identify molecular subtypes of pancreatic cancer
- P. Bailey, D. Chang, +99 authors S. Grimmond
- Biology, Medicine
- Nature
- 3 March 2016
Integrated genomic analysis of 456 pancreatic ductal adenocarcinomas identified 32 recurrently mutated genes that aggregate into 10 pathways: KRAS, TGF-β, WNT, NOTCH, ROBO/SLIT signalling, G1/S… Expand
Comprehensive Molecular Characterization of Human Colon and Rectal Cancer
- D. M. Muzny, M. Bainbridge, +310 authors E. Thomson
- Biology, Medicine
- Nature
- 4 June 2012
To characterize somatic alterations in colorectal carcinoma, we conducted a genome-scale analysis of 276 samples, analysing exome sequence, DNA copy number, promoter methylation and messenger RNA and… Expand
Comprehensive genomic characterization defines human glioblastoma genes and core pathways
- R. McLendon, A. Friedman, +228 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