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Permanent URL to this publication: http://dx.doi.org/10.5167/uzh-41520

Berger, M F; Levin, J Z; Vijayendran, K; Sivachenko, A; Adiconis, X; Maguire, J; Johnson, L A; Robinson, J; Verhaak, R G; Sougnez, C; Onofrio, R C; Ziaugra, L; Cibulskis, K; Laine, E; Barretina, J; Winckler, W; Fisher, D E; Getz, G; Meyerson, M; Jaffe, D B; Gabriel, S B; Lander, E S; Dummer, R; Gnirke, A; Nusbaum, C; Garraway, L A (2010). Integrative analysis of the melanoma transcriptome. Genome Research, 20(4):413-427.

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Global studies of transcript structure and abundance in cancer cells enable the systematic discovery of aberrations that contribute to carcinogenesis, including gene fusions, alternative splice isoforms, and somatic mutations. We developed a systematic approach to characterize the spectrum of cancer-associated mRNA alterations through integration of transcriptomic and structural genomic data, and we applied this approach to generate new insights into melanoma biology. Using paired-end massively parallel sequencing of cDNA (RNA-seq) together with analyses of high-resolution chromosomal copy number data, we identified 11 novel melanoma gene fusions produced by underlying genomic rearrangements, as well as 12 novel readthrough transcripts. We mapped these chimeric transcripts to base-pair resolution and traced them to their genomic origins using matched chromosomal copy number information. We also used these data to discover and validate base-pair mutations that accumulated in these melanomas, revealing a surprisingly high rate of somatic mutation and lending support to the notion that point mutations constitute the major driver of melanoma progression. Taken together, these results may indicate new avenues for target discovery in melanoma, while also providing a template for large-scale transcriptome studies across many tumor types.


147 citations in Web of Science®
152 citations in Scopus®
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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Dermatology Clinic
Dewey Decimal Classification:610 Medicine & health
Deposited On:08 Jan 2011 16:14
Last Modified:05 Apr 2016 14:32
Publisher:Cold Spring Harbor Laboratory Press
Free access at:Official URL. An embargo period may apply.
Publisher DOI:10.1101/gr.103697.109
Official URL:http://genome.cshlp.org/content/20/4/413.long
PubMed ID:20179022

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