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Academic literature on the topic 'For SNVQ Intermediate'

Author: Grafiati

Published: 4 June 2021

Last updated: 27 July 2025

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Journal articles on the topic "For SNVQ Intermediate"

1

Tu, Kailing, Keying Lu, Qilin Zhang, Wei Huang, and Dan Xie. "Accurate single-cell genotyping utilizing information from the local genome territory." Nucleic Acids Research 49, no. 10 (2021): e57-e57. http://dx.doi.org/10.1093/nar/gkab106.

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Abstract Single-nucleotide variant (SNV) detection in the genome of single cells is affected by DNA amplification artefacts, including imbalanced alleles and early PCR errors. Existing single-cell genotyper accuracy often depends on the quality and coordination of both the target single-cell and external data, such as heterozygous profiles determined by bulk data. In most single-cell studies, information from different sources is not perfectly matched. High-accuracy SNV detection with a limited single data source remains a challenge. We developed a new variant detection method, SCOUT (Single C

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2

Massey, Steven E., Adrian Jones, Daoyu Zhang, Yuri Deigin, and Steven C. Quay. "Unwarranted Exclusion of Intermediate Lineage A-B SARS-CoV-2 Genomes Is Inconsistent with the Two-Spillover Hypothesis of the Origin of COVID-19." Microbiology Research 14, no. 1 (2023): 448–53. http://dx.doi.org/10.3390/microbiolres14010033.

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Pekar et al. (2022) propose that SARS-CoV-2 was a zoonotic spillover that first infected humans in the Huanan Seafood Market in Wuhan, China. They propose that there were two separate spillovers of the closely related lineages A and lineage B in a short period of time. The two lineages are differentiated by two SNVs; hence, a single-SNV A-B intermediate must have occurred in an unsampled animal host if the two-spillover hypothesis is correct. Consequently, confirmation of the existence of an intermediate A-B genome from humans would falsify their hypothesis of two spillovers. Pekar et al. iden

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3

Stopka, Tomas, Karin Vargova, Vojtech Kulvait, Nina Dusilkova, and Anna T. Jonasova. "Somatic Mutation-Detecting Algorithm Enables Analysis of MDS Patients during Azacitidine Therapy." Blood 124, no. 21 (2014): 5600. http://dx.doi.org/10.1182/blood.v124.21.5600.5600.

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Abstract Introduction: Somatic mutation detection in myelodysplastic syndrome (MDS) is very important in deciphering clonal pathogenesis of every patient and if determined correctly will become useful tool in followup studies such as testing individual susceptibility to epigenetic therapy with azacitidine (AZA). While some patients respond to AZA by restoring hematologic parameters, others progress to AML. Recent identification of quite heterogeneous sets of mutated genes (Bejar R et al. 2013) suggested that: patients with specific mutation pattern/s may respond to epigenetic therapy different

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4

Bernasconi, Claude F., Rodney J. Ketner, Xin Chen, and Zvi Rappoport. "Detection and kinetic characterization of SNV intermediates. Reactions of thiomethoxybenzylidene Meldrum's acid with thiolate ions, alkoxide ions, OH-, and water in aqueous DMSO." Canadian Journal of Chemistry 77, no. 5-6 (1999): 584–94. http://dx.doi.org/10.1139/v99-009.

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The reaction of thiomethoxybenzylidene Meldrum's acid (5-SMe) with thiolate and alkoxide ion nucleophiles is shown to proceed by the two-step addition-elimination SNV mechanism in which the tetrahedral intermediate accumulates to detectable levels. For the reactions with thiolate ions, rate constants for nucleophilic addition (k1RX), its reverse (k-1RX), and for conversion of the intermediate to products (k2RX) were determined. For the reactions with alkoxide ions, only k1RX and k-1RX could be obtained; the intermediate in these reactions did not yield the expected substitution products, and h

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5

Dubois, Frank, Ofer Shapira, Noah Greenwald, et al. "HGG-41. STRUCTURAL VARIANT DRIVERS IN PEDIATRIC HIGH-GRADE GLIOMA." Neuro-Oncology 22, Supplement_3 (2020): iii351. http://dx.doi.org/10.1093/neuonc/noaa222.322.

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Abstract BACKGROUND Driver single nucleotide variants (SNV) and somatic copy number aberrations (SCNA) of pediatric high-grade glioma (pHGGs), including Diffuse Midline Gliomas (DMGs) are characterized. However, structural variants (SVs) in pHGGs and the mechanisms through which they contribute to glioma formation have not been systematically analyzed genome-wide. METHODS Using SvABA for SVs as well as the latest pipelines for SCNAs and SNVs we analyzed whole-genome sequencing from 174 patients. This includes 60 previously unpublished samples, 43 of which are DMGs. Signature analysis allowed u

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6

Tabori, Uri, Scott Ryall, Michal Zapotocky, et al. "LGG-50. INTEGRATED MOLECULAR AND CLINICAL ANALYSIS OF 1,000 PEDIATRIC LOW-GRADE GLIOMAS UNCOVERS NOVEL SUBGROUPS FOR CLINICAL RISK STRATIFICATION." Neuro-Oncology 22, Supplement_3 (2020): iii375—iii376. http://dx.doi.org/10.1093/neuonc/noaa222.428.

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Abstract Pediatric low-grade gliomas (pLGG) are primarily driven by genetic alterations in the RAS/MAPK pathway, most commonly involving BRAF of NF1. Despite their molecular convergence, pLGG often show unexplained variability in their clinical outcome. To address this, we molecularly characterized a cohort of &gt;1,000 clinically annotated pLGG. 84% of cases harbored a detectable driver mutation. The remaining 16% of patients nonetheless showed RAS/MAPK pathway up-regulation at the RNA level. The clinical presentation and outcome of pLGG appeared highly variable and linked to the alterati

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7

Nicolò, Eleonora, Lorenzo Gerratana, Lorenzo Foffano, et al. "Abstract PO3-06-05: Association of tumor-derived extracellular vesicles with circulating tumor DNA alterations in metastatic breast cancer patients: exploring differences in inflammatory breast cancer." Cancer Research 84, no. 9_Supplement (2024): PO3–06–05—PO3–06–05. http://dx.doi.org/10.1158/1538-7445.sabcs23-po3-06-05.

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Abstract Background: Liquid biopsy provides a real-time assessment of metastatic breast cancer (MBC). Recently, the complementary prognostic value of tumor-derived extracellular vesicles (tdEVs) and circulating tumor cells (CTCs) has been reported. We have previously confirmed the strong prognostic significance of CTCs and tdEVs in inflammatory breast cancer (IBC). While previous studies have reported the association of CTCs with circulating tumor DNA (ctDNA) alterations in MBC, no evidence is available for tdEVs. This study aimed to analyze the association of tdEVs with ctDNA alterations, to

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8

Karni, Miriam, Claude F. Bernasconi, and Zvi Rappoport. "Role of Negative Hyperconjugation and Anomeric Effects in the Stabilization of the Intermediate in SNV Reactions." Journal of Organic Chemistry 73, no. 8 (2008): 2980–94. http://dx.doi.org/10.1021/jo7017476.

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9

Couch, Fergus, Huaizhi Huang, Tina Pesaran, et al. "Saturation genome editing-based functional evaluation and clinical classification of BRCA2 single nucleotide variants." Journal of Clinical Oncology 42, no. 16_suppl (2024): 10511. http://dx.doi.org/10.1200/jco.2024.42.16_suppl.10511.

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10511 Background: Germline BRCA2 loss-of function (LOF) variants identified by clinical genetic testing predispose to breast, ovarian, prostate and pancreatic cancer. However, variants of uncertain significance (VUS) (n > 4000) limit the clinical use of testing results. Thus, there is an urgent need for functional characterization and clinical classification of all BRCA2 variants. Here we report on comprehensive saturation genome editing (SGE)-based functional characterization of 97% of all possible single nucleotide variants (SNVs) in the BRCA2 DNA Binding Domain hotspot encoded by exons 1

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10

van Belzen, Ianthe A. E. M., Marc van Tuil, Shashi Badloe, et al. "Molecular Characterization Reveals Subclasses of 1q Gain in Intermediate Risk Wilms Tumors." Cancers 14, no. 19 (2022): 4872. http://dx.doi.org/10.3390/cancers14194872.

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Chromosomal alterations have recurrently been identified in Wilms tumors (WTs) and some are associated with poor prognosis. Gain of 1q (1q+) is of special interest given its high prevalence and is currently actively studied for its prognostic value. However, the underlying mutational mechanisms and functional effects remain unknown. In a national unbiased cohort of 30 primary WTs, we integrated somatic SNVs, CNs and SVs with expression data and distinguished four clusters characterized by affected biological processes: muscle differentiation, immune system, kidney development and proliferation

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Books on the topic "For SNVQ Intermediate"

1

Clarke, Fernando. Business Spanish. Hodder & Stoughton, 1994.

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2

Ceserani, Victor. Practical cookery. 6th ed. Edited by Kinton Ronald and Foskett David 1951-. E. Arnold, 1987.

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3

Ceserani, Victor. Practical cookery. 6th ed. Edward Arnold, 1987.

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4

1951-, Foskett David, and Campbell John 1969-, eds. Practical cookery. Hodder Arnold, 2008.

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5

Ronald, Kinton, and Foskett David 1951-, eds. Practical cookery. 7th ed. Hodder & Stoughton, 1990.

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Ceserani, Victor, and Ronald Kinton. Practical Cookery. Hodder Arnold H&S, 1995.

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Ceserani, Victor, Ronald Kinton, and David Foskett. Practical Cookery. Taylor & Francis Group, 2000.

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