Results 101 to 110 of about 18,699,627 (208)

Timing the initiation of multiple myeloma

Nature Communications, 2020
The initial mutational processes and how these lead to progression in multiple myeloma (MM) are unclear. Here, the authors identify mutational signatures that occur over time in a large cohort of MM patients and suggest features that may help in early ...
Even H. Rustad, Venkata Yellapantula, Daniel Leongamornlert, Niccolò Bolli, Guy Ledergor, Ferran Nadeu, Nicos Angelopoulos, Kevin J. Dawson, Thomas J. Mitchell, Robert J. Osborne, Bachisio Ziccheddu, Cristiana Carniti, Vittorio Montefusco, Paolo Corradini, Kenneth C. Anderson, Philippe Moreau, Elli Papaemmanuil, Ludmil B. Alexandrov, Xose S. Puente, Elias Campo, Reiner Siebert, Herve Avet-Loiseau, Ola Landgren, Nikhil Munshi, Peter J. Campbell, Francesco Maura   +25 more
doaj   +1 more source

Somatic mutational profiles and germline polygenic risk scores in human cancer

Genome Medicine, 2022
Background The mutational profile of cancer reflects the activity of the mutagenic processes which have been operative throughout the lineage of the cancer cell.
Yuxi Liu, Alexander Gusev, Yujing J. Heng, Ludmil B. Alexandrov, Peter Kraft   +4 more
doaj   +1 more source

Genesis of ancestral haplotypes: RNA modifications and reverse transcription–mediated polymorphisms [PDF]

, 2011
Understanding the genesis of the block haplotype structure of the genome is a major challenge. With the completion of the sequencing of the Human Genome and the initiation of the HapMap project the concept that the chromosomes of the mammalian genome are
Carnegie, P., Dawkins, R.L., Lester, S., Lindley, R.A., Millman, J.A., Pain, G.N., Steele, E.J., Stewart, B.J., Williamson, J.F.   +8 more
core   +2 more sources

Impact of cancer mutational signatures on transcription factor motifs in the human genome

BMC Medical Genomics, 2019
Background Somatic mutations in cancer genomes occur through a variety of molecular mechanisms, which contribute to different mutational patterns. To summarize these, mutational signatures have been defined using a large number of cancer genomes, and ...
Calvin Wing Yiu Chan, Zuguang Gu, Matthias Bieg, Roland Eils, Carl Herrmann   +4 more
doaj   +1 more source

pyCancerSig: subclassifying human cancer with comprehensive single nucleotide, structural and microsatellite mutational signature deconstruction from whole genome sequencing

BMC Bioinformatics, 2020
Background DNA damage accumulates over the course of cancer development. The often-substantial amount of somatic mutations in cancer poses a challenge to traditional methods to characterize tumors based on driver mutations.
Jessada Thutkawkorapin, Jesper Eisfeldt, Emma Tham, Daniel Nilsson   +3 more
doaj   +1 more source

Faster Mutation Analysis via Equivalence Modulo States [PDF]

arXiv, 2017
Mutation analysis has many applications, such as asserting the quality of test suites and localizing faults. One important bottleneck of mutation analysis is scalability. The latest work explores the possibility of reducing the redundant execution via split-stream execution.
arxiv  

APOBEC-related mutagenesis and neo-peptide hydrophobicity: implications for response to immunotherapy. [PDF]

, 2019
Tumor-associated neo-antigens are mutated peptides that allow the immune system to recognize the affected cell as foreign. Cells carrying excessive mutation load often develop mechanisms of tolerance.
Boichard, Amélie, Frampton, Garrett M, Goodman, Aaron, Kurzrock, Razelle, Lippman, Scott, Pham, Timothy V, Tamayo, Pablo, Tsigelny, Igor F, Yeerna, Huwate   +8 more
core  

Mutational signature distribution varies with DNA replication timing and strand asymmetry

Genome Biology, 2018
Background DNA replication plays an important role in mutagenesis, yet little is known about how it interacts with other mutagenic processes. Here, we use somatic mutation signatures—each representing a mutagenic process—derived from 3056 patients ...
Marketa Tomkova, Jakub Tomek, Skirmantas Kriaucionis, Benjamin Schuster-Böckler   +3 more
doaj   +1 more source

Fixation probability of a nonmutator in a large population of asexual mutators [PDF]

Journal of Theoretical Biology 433 (2017) 85-93, 2017
In an adapted population of mutators in which most mutations are deleterious, a nonmutator that lowers the mutation rate is under indirect selection and can sweep to fixation. Using a multitype branching process, we calculate the fixation probability of a rare nonmutator in a large population of asexual mutators.
arxiv  

A practical guide for mutational signature analysis in hematological malignancies

Nature Communications, 2019
Mutational signature analysis provides important information about the mutational processes underpinning different stages of tumorigenesis. Here, the authors compare publicly available signature extraction tools and suggest a framework for the generation
Francesco Maura, Andrea Degasperi, Ferran Nadeu, Daniel Leongamornlert, Helen Davies, Luiza Moore, Romina Royo, Bachisio Ziccheddu, Xose S. Puente, Herve Avet-Loiseau, Peter J. Campbell, Serena Nik-Zainal, Elias Campo, Nikhil Munshi, Niccolò Bolli   +14 more
doaj   +1 more source