Results 61 to 70 of about 18,996,847 (344)

Spontaneous mutation accumulation in multiple strains of the green alga, Chlamydomonas reinhardtii [PDF]

open access: yes, 2014
Estimates of mutational parameters, such as the average fitness effect of a new mutation and the rate at which new genetic variation for fitness is created by mutation, are important for the understanding of many biological processes. However, the causes
Adams   +65 more
core   +1 more source

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

open access: yesbioRxiv, 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   +58 more
semanticscholar   +1 more source

Biochemical reconstitution of heat-induced mutational processes. [PDF]

open access: yesPLoS One
Non-enzymatic spontaneous deamination of 5-methylcytosine, producing thymine, is the proposed etiology of cancer mutational signature 1, which is the most predominant signature in all cancers. Here, the proposed mutational process was reconstituted using synthetic DNA and purified proteins.
Sugiyama T.
europepmc   +3 more sources

Germline and somatic variations influence the somatic mutational signatures of esophageal squamous cell carcinomas in a Chinese population

open access: yesBMC Genomics, 2018
Background Esophageal squamous cell carcinomas (ESCC) is the fourth most lethal cancer in China. Previous studies reveal several highly conserved mutational processes in ESCC.
Jintao Guo   +11 more
doaj   +1 more source

A practical framework RNMF for exploring the association between mutational signatures and genes using gene cumulative contribution abundance

open access: yesCancer Medicine, 2022
Background Mutational signatures are somatic mutation patterns enriching operational mutational processes, which can provide abundant information about the mechanism of cancer.
Zhenzhang Li   +3 more
doaj   +1 more source

Blastic plasmacytoid dendritic cell neoplasm: Genomics mark epigenetic dysregulation as a primary therapeutic target [PDF]

open access: yes, 2019
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and aggressive hematologic malignancy for which there is still no effective B therapy.
Abate F.   +30 more
core   +2 more sources

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

open access: yesbioRxiv, 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   +42 more
semanticscholar   +1 more source

Mutational landscape and underlying mutational processes in chronic lymphocytic leukemia [PDF]

open access: yesMolecular & Cellular Oncology, 2016
Sequencing studies have been instrumental in understanding the genetic basis of chronic lymphocytic leukemia (CLL). Our recent whole-genome sequencing study focusing on lower cytogenetic risk CLL demonstrated that CLL mutations can be attributed to 3 key mutational processes-2 types of activation induced-cytidine deaminase (AID) signatures and an aging
Kasar, S., Brown, J. R.
openaire   +3 more sources

A data-driven approach for constructing mutation categories for mutational signature analysis.

open access: yesPLoS Computational Biology, 2021
Mutational processes shape the genomes of cancer patients and their understanding has important applications in diagnosis and treatment. Current modeling of mutational processes by identifying their characteristic signatures views each base substitution ...
Gal Gilad   +2 more
doaj   +1 more source

Functional Bias and Spatial Organization of Genes in Mutational Hot and Cold Regions in the Human Genome [PDF]

open access: yes, 2004
The neutral mutation rate is known to vary widely along human chromosomes, leading to mutational hot and cold regions. We provide evidence that categories of functionally-related genes reside preferentially in mutationally hot or cold regions, the size ...
Chuang, Jeffrey H., Li, Hao
core   +5 more sources

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