Genomics

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A Comprehensive Catalogue of Somatic Mutations from a Human Cancer Genome


ABSTRACT: We have carried out complete sequencing of the genome of the human male maligant melanoma cell line COLO-829 using the Illumina Genome Analyzer II. We generated a sequencing library with a median insert size of ~200 bp following random fragmentation and gel fractionation of the genomic DNA. We sequenced 75 bases from both ends of these templates to cover the COLO-829 genome to an average depth of more than 40x. We have carried out purity-filtering (PF) to remove mixed reads, where two or more different template molecules are close enough on the surface of the flow-cell to form a mixed or overlapping cluster. No other filtering of the data has been carried out prior to submission. We have also submitted sequence data for a lymphoblastoid control cell line COLO-829BL from the same individual.

PROVIDER: EGAS00000000052 | EGA |

REPOSITORIES: EGA

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A comprehensive catalogue of somatic mutations from a human cancer genome.

Pleasance Erin D ED   Cheetham R Keira RK   Stephens Philip J PJ   McBride David J DJ   Humphray Sean J SJ   Greenman Chris D CD   Varela Ignacio I   Lin Meng-Lay ML   Ordóñez Gonzalo R GR   Bignell Graham R GR   Ye Kai K   Alipaz Julie J   Bauer Markus J MJ   Beare David D   Butler Adam A   Carter Richard J RJ   Chen Lina L   Cox Anthony J AJ   Edkins Sarah S   Kokko-Gonzales Paula I PI   Gormley Niall A NA   Grocock Russell J RJ   Haudenschild Christian D CD   Hims Matthew M MM   James Terena T   Jia Mingming M   Kingsbury Zoya Z   Leroy Catherine C   Marshall John J   Menzies Andrew A   Mudie Laura J LJ   Ning Zemin Z   Royce Tom T   Schulz-Trieglaff Ole B OB   Spiridou Anastassia A   Stebbings Lucy A LA   Szajkowski Lukasz L   Teague Jon J   Williamson David D   Chin Lynda L   Ross Mark T MT   Campbell Peter J PJ   Bentley David R DR   Futreal P Andrew PA   Stratton Michael R MR  

Nature 20091216 7278


All cancers carry somatic mutations. A subset of these somatic alterations, termed driver mutations, confer selective growth advantage and are implicated in cancer development, whereas the remainder are passengers. Here we have sequenced the genomes of a malignant melanoma and a lymphoblastoid cell line from the same person, providing the first comprehensive catalogue of somatic mutations from an individual cancer. The catalogue provides remarkable insights into the forces that have shaped this  ...[more]

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