Results 41 to 50 of about 18,512,812 (309)

Signatures of Mutational Processes in Human DNA Evolution

bioRxiv, 2021
The human genome contains over 100 million SNPs, most of which are C/T (G/A) variations. The type and sequence context of these SNPs are not random, suggesting that they are caused by distinct mutational processes.
H. Hamidi, Hamid Alinejad-Rokny, Tim H. H. Coorens, R. Sanghvi, S. Lindsay, R. Rahbari, Diako Ebrahimi   +6 more
semanticscholar   +1 more source

Functional and genetic determinants of mutation rate variability in regulatory elements of cancer genomes

Genome Biology, 2021
Background Cancer genomes are shaped by mutational processes with complex spatial variation at multiple scales. Entire classes of regulatory elements are affected by local variations in mutation frequency.
Christian A. Lee, Diala Abd-Rabbo, Jüri Reimand   +2 more
doaj   +1 more source

On branching process with rare neutral mutation [PDF]

Bernoulli, 2018
arXiv admin note: text overlap with arXiv:0904.0581 by other ...
Blancas, Airam, Rivero, Víctor
openaire   +4 more sources

The impact of mutational processes on structural genomic plasticity in cancer cells

bioRxiv, 2021
Structural genome alterations are determinants of cancer ontogeny and therapeutic response. While bulk genome sequencing has enabled delineation of structural variation (SV) mutational processes which generate patterns of DNA damage, we have little ...
Tyler Funnell, C. O’Flanagan, Marc J. Williams, A. McPherson, S. McKinney, Farhia Kabeer, Hakwoo Lee, T. Masud, P. Eirew, Damian Boon Siew Yap, Allen W. Zhang, J. Lim, Beixi Wang, Jazmine Brimhall, Justina Biele, J. Ting, Y. Liu, S. Beatty, D. Lai, Jenifer Pham, Diljot S. Grewal, Douglas Abrams, Eliyahu Havasov, Samantha Leung, V. Bojilova, Richard A. Moore, Nicole Rusk, F. Uhlitz, Nicholas Ceglia, A. Weiner, J. M. Douglas, D. Zamarin, B. Weigelt, Sarah H. Kim, A. Da Cruz Paula, J. Reis-Filho, Yangguang Li, Hong Xu, Teresa Ruiz de Algara, So Ra Lee, Viviana Cerda Llanos, Sohrab P. Shah, Samuel Aparicio   +42 more
semanticscholar   +1 more source

Network-based approaches elucidate differences within APOBEC and clock-like signatures in breast cancer

Genome Medicine, 2020
Background Studies of cancer mutations have typically focused on identifying cancer driving mutations that confer growth advantage to cancer cells. However, cancer genomes accumulate a large number of passenger somatic mutations resulting from various ...
Yoo-Ah Kim, Damian Wojtowicz, Rebecca Sarto Basso, Itay Sason, Welles Robinson, Dorit S. Hochbaum, Mark D. M. Leiserson, Roded Sharan, Fabio Vadin, Teresa M. Przytycka   +9 more
doaj   +1 more source

Immune and malignant cell phenotypes of ovarian cancer are determined by distinct mutational processes

bioRxiv, 2021
High-grade serous ovarian cancer (HGSOC) is an archetypal cancer of genomic instability patterned by distinct mutational processes, intratumoral heterogeneity and intraperitoneal spread.
I. Vázquez-García, F. Uhlitz, Nicholas Ceglia, J. Lim, Michelle Wu, N. Mohibullah, A. Ruiz, K. Boehm, V. Bojilova, Christopher J. Fong, Tyler Funnell, Diljot S. Grewal, Eliyahu Havasov, Samantha Leung, Arfath Pasha, Druv M. Patel, Maryam Pourmaleki, Nicole Rusk, Hongyu Shi, R. Vanguri, Marc J. Williams, Allen W. Zhang, V. Broach, D. Chi, A. Da Cruz Paula, G. Gardner, Sarah H. Kim, M. Lennon, K. Roche, Y. Sonoda, O. Zivanovic, Ritika Kundra, A. Viale, F. Derakhshan, Luke Geneslaw, A. Maroldi, Rahelly Nunez, F. Pareja, A. Stylianou, M. Vahdatinia, Y. Bykov, R. Grisham, Ying L. Liu, Y. Lakhman, I. Nikolovski, D. Kelly, Jianjiong Gao, A. Schietinger, T. Hollmann, S. Bakhoum, R. Soslow, Lora H. Ellenson, N. Abu-Rustum, C. Aghajanian, C. Friedman, A. McPherson, B. Weigelt, D. Zamarin, Sohrab P. Shah   +58 more
semanticscholar   +1 more source

Clock-like mutational processes in human somatic cells. [PDF]

Nat Genet, 2015
Alexandrov LB, Jones PH, Wedge DC, Sale JE, Campbell PJ, Nik-Zainal S, Stratton MR.   +6 more
europepmc   +2 more sources

Non-coding cancer driver candidates identified with a sample- and position-specific model of the somatic mutation rate

eLife, 2017
Non-coding mutations may drive cancer development. Statistical detection of non-coding driver regions is challenged by a varying mutation rate and uncertainty of functional impact.
Malene Juul, Johanna Bertl, Qianyun Guo, Morten Muhlig Nielsen, Michał Świtnicki, Henrik Hornshøj, Tobias Madsen, Asger Hobolth, Jakob Skou Pedersen   +8 more
doaj   +1 more source

Mutated genes, pathways and processes in tumours [PDF]

EMBO reports, 2010
Integration of the many available sources of cancer gene information—such as large‐scale tumour‐resequencing studies— identifies the ‘usual suspect’ genes, mutated in many tumour types, as well as different sets of mutated genes according to the specific tumour type.
Alfonso Valencia, Anaïs Baudot, Victor De La Torre   +2 more
openaire   +3 more sources

Copy number signatures and mutational processes in ovarian carcinoma. [PDF]

Nat Genet, 2018
The genomic complexity of profound copy number aberrations has prevented effective molecular stratification of ovarian cancers. Here, to decode this complexity, we derived copy number signatures from shallow whole-genome sequencing of 117 high-grade ...
Macintyre G, Goranova TE, De Silva D, Ennis D, Piskorz AM, Eldridge M, Sie D, Lewsley LA, Hanif A, Wilson C, Dowson S, Glasspool RM, Lockley M, Brockbank E, Montes A, Walther A, Sundar S, Edmondson R, Hall GD, Clamp A, Gourley C, Hall M, Fotopoulou C, Gabra H, Paul J, Supernat A, Millan D, Hoyle A, Bryson G, Nourse C, Mincarelli L, Sanchez LN, Ylstra B, Jimenez-Linan M, Moore L, Hofmann O, Markowetz F, McNeish IA, Brenton JD.   +38 more
europepmc   +2 more sources