Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 66,973 bioRxiv papers from 294,811 authors.
The Repertoire of Mutational Signatures in Human Cancer
Nicholas J Haradhvala,
Mi Ni Huang,
Alvin W T Ng,
Kyle R Covington,
Dmitry A. Gordenin,
Erik N Bergstrom,
S. M. Ashiqul Islam,
Leszek J. Klimczak,
John R McPherson,
David A Wheeler,
the PCAWG Mutational Signatures Working Group,
Steven G. Rozen,
Michael R. Stratton
Posted 15 May 2018
bioRxiv DOI: 10.1101/322859
Posted 15 May 2018
Somatic mutations in cancer genomes are caused by multiple mutational processes each of which generates a characteristic mutational signature. Using 84,729,690 somatic mutations from 4,645 whole cancer genome and 19,184 exome sequences encompassing most cancer types we characterised 49 single base substitution, 11 doublet base substitution, four clustered base substitution, and 17 small insertion and deletion mutational signatures. The substantial dataset size compared to previous analyses enabled discovery of new signatures, separation of overlapping signatures and decomposition of signatures into components that may represent associated, but distinct, DNA damage, repair and/or replication mechanisms. Estimation of the contribution of each signature to the mutational catalogues of individual cancer genomes revealed associations with exogenous and endogenous exposures and defective DNA maintenance processes. However, many signatures are of unknown cause. This analysis provides a systematic perspective on the repertoire of mutational processes contributing to the development of human cancer including a comprehensive reference set of mutational signatures in human cancer.
- Downloaded 13,794 times
- Download rankings, all-time:
- Site-wide: 61 out of 67,014
- In cancer biology: 2 out of 2,258
- Year to date:
- Site-wide: 39 out of 67,014
- Since beginning of last month:
- Site-wide: 63 out of 67,014
Downloads over time
Distribution of downloads per paper, site-wide
- Top preprints of 2018
- Paper search
- Author leaderboards
- Overall metrics
- The API
- Email newsletter
- 21 May 2019: PLOS Biology has published a community page about Rxivist.org and its design.
- 10 May 2019: The paper analyzing the Rxivist dataset has been published at eLife.
- 1 Mar 2019: We now have summary statistics about bioRxiv downloads and submissions.
- 8 Feb 2019: Data from Altmetric is now available on the Rxivist details page for every preprint. Look for the "donut" under the download metrics.
- 30 Jan 2019: preLights has featured the Rxivist preprint and written about our findings.
- 22 Jan 2019: Nature just published an article about Rxivist and our data.
- 13 Jan 2019: The Rxivist preprint is live!