A5066773906- Bladder and Urothelial Cancer Treatments
- Cancer, Hypoxia, and Metabolism
- Epigenetics and DNA Methylation
- Mitochondrial Function and Pathology
- Cancer Genomics and Diagnostics
- Genomics and Phylogenetic Studies
- Lung Cancer Research Studies
- DNA Repair Mechanisms
- Evolution and Genetic Dynamics
- Metabolism and Genetic Disorders
- RNA modifications and cancer
- Forensic and Genetic Research
- Pluripotent Stem Cells Research
- Chromatin Remodeling and Cancer
- CRISPR and Genetic Engineering
- Metabolomics and Mass Spectrometry Studies
- Pancreatic and Hepatic Oncology Research
- Gene expression and cancer classification
- Genetic diversity and population structure
- Cancer Mechanisms and Therapy
- Renal and related cancers
- Forensic Anthropology and Bioarchaeology Studies
- RNA and protein synthesis mechanisms
- Pleistocene-Era Hominins and Archaeology
- Bacteriophages and microbial interactions
Foundation Medicine (United States)
2022-2024
Northeastern University
2017-2023
Fitchburg State University
2021
Universidad del Noreste
2017-2021
University of Tulsa
2020
Pharmaceutical Biotechnology (Czechia)
2020
Abstract Background Malignant pleural and peritoneal mesotheliomas are rare malignancies with unacceptable poor prognoses limited treatment options. The genomic landscape is mainly characterised by the loss of tumour suppressor genes mutations in DNA repair genes. Currently, data from next-generation sequencing (NGS) mesothelioma tumours restricted to a number cases; moreover, comparing molecular features origin NGS lacking. Methods We analysed 1113 355 samples. All were sequenced...
Abstract The mutational spectrum of the mitochondrial DNA (mtDNA) does not resemble any known signatures nuclear genome and variation in mtDNA spectra between different organisms is still incomprehensible. Since mitochondria are responsible for aerobic respiration, it expected that affected by oxidative damage. Assuming damage increases with age, we analyse mutagenesis species regards to their generation length. Analysing, (i) dozens thousands somatic mutations samples ages (ii) 70053...
Pancreatic cancer (PC) represents an aggressive disease with median overall survival (OS) of less than 1 year in the front-line setting. FOLFIRINOX and gemcitabine paclitaxel (GP) are standard care options for these patients; however, optimal selection therapy is challenging.
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5][6] At least 10 variants were required for signature analysis, which included all predicted somatic point with unknown functional status.TMB, quantified in mutations per megabase (mt/Mb), was determined on up to 1.1 Mb of DNA.Statistical tests 2-sided and used a significance threshold P < .05. ResultsAmong 343 589 tumors, each from different patient, 73 944 (21.5%) had sufficient 8143 tumors (11.0%) exhibited UV signatures (median [IQR] TMB, 31.3 [15.0-61.3]mt/Mb).Among the full cohort,...
Analysis of 260K tumors IDs copy-number signatures and a HRD biomarker predictive PARPi response.
Abstract In 2004, the identification of female germline or oogonial stem cells (OSCs) that can support post–natal oogenesis in ovaries adult mice sparked a major paradigm shift reproductive biology. Although these findings have been independently verified, and further extended to include OSCs many species ranging from pigs cows non–human primates humans, recent study rooted single–cell RNA sequence analysis (scRNA-seq) human ovarian cortical tissue claimed do not exist, other groups working...
Abstract Radiotherapy (RT) for prostate cancer has been associated with an increased risk the development of bladder cancer. We aimed to integrate clinical and genomic data better understand RT-associated A retrospective analysis was performed identify control patients (CTRL; n = 41) (n 41). RT- CTRL-specific features were then identified through integration sequencing variables. tumors significantly enriched alterations in KDM6A ATM, whereas CTRL CDKN2A mutation. Globally, there number...
The hypothesis that the evolution of humans involves hybridization between diverged species has been actively debated in recent years. We present following novel evidence support this hypothesis: analysis nuclear pseudogenes mtDNA ("NUMTs"). NUMTs are considered "mtDNA fossils" as they preserve sequences ancient and thus carry unique information about ancestral populations. Our comparison a NUMT sequence shared by humans, chimpanzees, gorillas with their mtDNAs implies that, around time...
Abstract The A-to-G point mutation at position 3243 in the human mitochondrial genome (m.3243A &gt; G) is most common pathogenic mtDNA variant responsible for disease humans. It widely accepted that m.3243A G levels decrease blood with age, and an age correction representing ~ 2% annual decline often applied to account this change level. Here we report recent data indicate dynamics of are more complex depend on level a bi-phasic way. Consequently, traditional correction, which adequate...
Third-generation sequencing offers some advantages over next-generation predecessors, but with the caveat of harboring a much higher error rate. Clustering-related sequences is an essential task in modern biology. To accurately cluster rich errors, type and frequency need to be accounted for. Levenshtein distance well-established mathematical algorithm for measuring edit between words can specifically weight insertions, deletions substitutions. However, there are drawbacks using biological...
Every area of biological and biomedical research is rooted one way or another in understanding the precise order nucleotides DNA RNA molecules, how changes these sequences subsequently alter downstream function phenotype within across generations.These principles apply to all living organisms, as well entities such viruses that are considered by many non-living organisms.Nucleotide sequence analysis has evolved considerably since Holley colleagues reported first complete a nucleic acid 1965...
Abstract The hypothesis that the evolution of humans involved hybridization between diverged species has been actively debated in recent years. We present novel evidence support this hypothesis: analysis nuclear pseudogenes mtDNA (“NUMTs”). NUMTs are considered “mtDNA fossils”, as they preserve sequences ancient and thus carry unique information about ancestral populations. Our comparison a NUMT sequence shared by humans, chimpanzees, gorillas with their mtDNAs implies that, around time...
Abstract The aim of this study was to determine the pan-cancer landscape MUTYH alterations and relationship between mutations potentially actionable biomarkers such as specific genomic alterations, tumor mutational burden, signatures. We used a large comprehensive dataset from patients profiled (tissue next generation sequencing) during routine clinical care. Overall, 2.8% 229 120 solid tumors had which 55% were predicted germline. Thirty types 2% or greater mutation rate. MUTYH-altered...