Готові списки джерел за темами / NGS, exome, Leukemia

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Добірка наукової літератури з теми "NGS, exome, Leukemia"

Автор: Grafiati
Опубліковано: 11 березня 2023

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Статті в журналах з теми "NGS, exome, Leukemia"

1

Lavallée, Vincent-Philippe, Patrick Gendron, Geneviève Boucher, et al. "NGS-Based Detection Of Multiple RAS-Mutated Clones In MLL-Rearranged Leukemias Suggests Strong Oncogenic Collaboration." Blood 122, no. 21 (2013): 744. http://dx.doi.org/10.1182/blood.v122.21.744.744.

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Abstract Background Recent development in sequencing technologies with deep coverage for mutation analysis has enabled the identification of clonal architecture in some cancers. RAS mutations are observed in a large proportion of MLL leukemias. Our hypothesis is that determination of RAS mutation status in MLL leukemias should provide insights into the clonal make up of this disease and clues about the nature of clones that overcome therapy. Methods We combined exome and transcriptome sequencing in 32 adult MLL leukemias and results were compared to our cohort of 48 normal karyotype (NK) AML.
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2

Redaelli, Sara, Rocco Piazza, Alessandra Pirola, et al. "Recurrent KIT D816V Mutation in Atypical Chronic Myeloid Leukemia." Blood 124, no. 21 (2014): 3576. http://dx.doi.org/10.1182/blood.v124.21.3576.3576.

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Abstract INTRODUCTION: Atypical Chronic Myeloid Leukemia (aCML) is a heterogeneous disorder belonging to the group of myelodysplastic/myeloproliferative syndromes, characterized by a poor prognosis with a median survival time of 37 months. In 2013, by applying Next Generation Sequencing (NGS) technologies on 8 aCML cases, we demonstrated the presence of a recurrent somatic mutations in the SETBP1 gene (Piazza et al, Nat Gen 2013). SETBP1 mutations were identified in approximately 30% of aCML cases. AIM: To further characterize the molecular pathogenesis of aCML and to possibly identify other r
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3

Zhang, Jinghui. "Decoding the Cancer Genome: Insights from Bioinformatic Studies." Blood 124, no. 21 (2014): SCI—5—SCI—5. http://dx.doi.org/10.1182/blood.v124.21.sci-5.sci-5.

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The characterization of the landscape of genetic lesions that underlie cancer has been significantly advanced with the recent application of next-generation sequencing (NGS) technology. To define the genomic landscapes of 21 different pediatric cancer subtypes of brain tumors, solid tumors and leukemias, we analyzed >1,000 pediatric cancers and matched control tissue by whole-genome, whole-exome or transcriptome sequencing as part of the St Jude Children’s Research Hospital – Washington University Pediatric Cancer Genome Project (PCGP). Novel bioinformatics methods for integrative analysis
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4

Vago, Luca, Davide Cittaro, Cristina Toffalori, et al. "Backtracking Leukemia Clonal Evolution from Post-Transplantation Relapse to Initial Diagnosis to Identify Founder Mutations and Mechanisms of Immune Evasion." Blood 124, no. 21 (2014): 1185. http://dx.doi.org/10.1182/blood.v124.21.1185.1185.

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Abstract INTRODUCTION: Although allogeneic Hematopoietic Stem Cell Transplantation (allo-HSCT) can accomplish apparent leukemia eradication in most patients, residual tumor cells can persist over time and eventually outgrow, resulting in clinical relapse. The genetic landscape of relapsing leukemia is often markedly different from its counterpart at diagnosis, due to clonal evolution (Ding et al, Nature, 2012) and selection of treatment-resistant variants (Vago et al, N Engl J Med, 2009). A potential solution to treat, or even prevent, relapse is to identify and specifically target mutations o
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5

Haferlach, Torsten. "Whole Exome Sequencing in Patients With Hematologic Malignancies: Ready for Real-Time Precision Medicine?" Blood 130, Suppl_1 (2017): SCI—6—SCI—6. http://dx.doi.org/10.1182/blood.v130.suppl_1.sci-6.sci-6.

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Анотація:
In the last decade the landscape in hematological diseases has been newly defined. New platforms and assays in research have been used, new pathways, variations in genes and targets for precision medicine have been detected. Next generation sequencing (NGS) contributed a lot to these important achievements. In parallel, NGS has emerged from a research tool to a diagnostic tool and is increasingly applied in routine diagnostic laboratories. Today, NGS techniques are capable of facilitating diagnostics to detect mutations, many variants of uncertain significance, translocations but also gains an
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6

Kohlmann, Alexander, Andreas Roller, Sandra Weissmann, et al. "Targeted Next-Generation Sequencing Of 2,761 Genes Detects Copy Number States and Molecular Mutations In a Single Approach." Blood 122, no. 21 (2013): 1371. http://dx.doi.org/10.1182/blood.v122.21.1371.1371.

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Abstract Introduction In acute myeloid leukemia (AML), the karyotype and molecular mutation profile are the strongest determinants for prognosis and biological subclassification. Yet, diagnostic analyses rely on chromosome banding technique and sequencing of a constantly growing number of genes. Aims In an era of novel high-throughput sequencing assays becoming viable options for diagnostic implementation we aimed to evaluate whether the application of targeted exome sequencing can reliably identify copy number states and molecular mutations in a single-step procedure. Patients and Methods The
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7

Padella, Antonella, Giorgia Simonetti, Viviana Guadagnuolo, et al. "Next-Generation Sequencing Analysis Revealed That BCL11B Chromosomal Translocation Cooperates with Point Mutations in the Pathogenesis of Acute Myeloid Leukemia." Blood 124, no. 21 (2014): 2352. http://dx.doi.org/10.1182/blood.v124.21.2352.2352.

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Abstract Whole exome and transcriptome sequencing (WES and RNAseq) technologies are able to provide a comprehensive analysis of the genomic aberrations acquired by malignant cells, of their synergistic effects and functional consequences. In particular, RNAseq enables the detection of gene fusions originating from rare chromosomal translocations that have been involved in the pathogenesis of Acute Myeloid Leukemia (AML). We performed WES and RNAseq of AML patients to identify novel genetic abnormalities playing a causative role in leukemia development. We collected bone marrow or peripheral bl
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8

Chen, Suning, Nana Ping, Jia Yin, et al. "Exome Sequencing Identifies Highly Recurrent Somatic GATA2 and CEBPA Mutations in Acute Erythroid Leukemia." Blood 126, no. 23 (2015): 1394. http://dx.doi.org/10.1182/blood.v126.23.1394.1394.

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Abstract Acute erythroid leukemia (AEL) is a distinct subtype of acute myeloid leukemia (AML) characterized by predominant erythropoiesis. Currently, only few studies using next-generation sequencing were reported in AEL. To decipher the somatic mutation spectrum and discover disease-driving genes responsible for the pathogenesis of AEL, we performed whole exome-sequencing (WES) in 6 AEL and validating using targeted next generation sequencing (NGS) and Sanger sequencing in 58 AEL. From August 2003 to October 2014, a total of 158 patients fulfilling the WHO criteria for AEL were identified, co
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9

Ferrari, Anna, Andrea Ghelli Luserna Di Rora, Italo Do Valle, et al. "Clustering Adult ACUTE Lymphoblastic Leukemia (ALL) Philadelphia Negative (Ph-) By Whole Exome Sequencing (WES) Analysis." Blood 126, no. 23 (2015): 2623. http://dx.doi.org/10.1182/blood.v126.23.2623.2623.

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Abstract Introduction: Adult ALL represents a biologically and clinically heterogeneous group. Incidence and cure rates differ among children and adults. In adults, ALL is less common and generally carries a worse prognosis with shorter long-term survival probability. Although the remarkable progress made in the treatment of ALL in children and, with less efficacy, in adults, several ALL subtypes continue to have a poor prognosis. Aims: focus our attention on adult Ph-negative ALL pts using whole exome experiments to discover novel insights into the mechanisms involved in leukemogenesis and to
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10

Niro, Antonio, Rocco Piazza, Gabriele Merati, et al. "ETNK1 Is an Early Event and SETBP1 a Late Event in Atypical Chronic Myeloid Leukemia." Blood 126, no. 23 (2015): 3652. http://dx.doi.org/10.1182/blood.v126.23.3652.3652.

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Анотація:
Abstract Atypical Chronic Myeloid Leukemia (aCML) is a clonal disorder belonging to the myelodisplastic-myeloproliferative neoplasms, according to the WHO-2008 classification. From a clinical point of view it closely resembles the classical Chronic Myeloid Leukemia (CML), however it lacks the presence of the Philadelphia chromosome and of the BCR-ABL1 fusion gene. In recent works, we and others characterized the somatic lesions present in the aCML genome, mainly by using Next Generation Sequencing (NGS) technologies, demonstrating the presence of a large set of recurrent somatic mutations invo
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Дисертації з теми "NGS, exome, Leukemia"

1

Cortese, Diego. "Genomic and transcriptomic sequencing in chronic lymphocytic leukemia." Doctoral thesis, Uppsala universitet, Institutionen för immunologi, genetik och patologi, 2016. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-303703.

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Анотація:
Identification of recurrent mutations through next-generation sequencing (NGS) has given us a deeper understanding of the molecular mechanisms involved in chronic lymphocytic leukemia (CLL) development and progression and provided novel means for risk assessment in this clinically heterogeneous disease. In paper I, we screened a population-based cohort of CLL patients (n=364) for TP53, NOTCH1, SF3B1, BIRC3 and MYD88 mutations using Sanger sequencing, and confirmed the negative prognostic impact of TP53, SF3B1 or NOTCH1 aberrations, though at lower frequencies compared to previous studies. In p
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2

Garonzi, Marianna. "ANALYSIS AND INTERPRETATION OF WHOLE EXOME SEQUENCING DATA OF LEUKEMIA PATIENTS." Doctoral thesis, 2017. http://hdl.handle.net/11562/960651.

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Анотація:
Leukemias are a cancer type which affects the leukocytes progenitor cells. These malignancies are highly heterogeneous in terms of molecular mechanisms involved in their onset and progression. Heterogeneity can be further observed within the same subgroup of disease at the inter-individual level, being reflected by different clinical outcomes and responses to treatment in different patients. Unfortunately, the exact leukemia aetiology is still poorly understood and consequently also related prevention, diagnostic, prognostic and follow up methods remain mainly unidentified. Therefore, early-di
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Тези доповідей конференцій з теми "NGS, exome, Leukemia"

1

Simonetti, Giorgia, Antonella Padella, Ilaria Iacobucci, et al. "Abstract A27: European Network NGS-PTL preliminary data: Whole exome sequencing identifies mutations of ALDH2, RETSAT, HSPG2, CHPF and other metabolic genes as a novel functional category in acute myeloid leukemia." In Abstracts: AACR Special Conference: Metabolism and Cancer; June 7-10, 2015; Bellevue, WA. American Association for Cancer Research, 2016. http://dx.doi.org/10.1158/1557-3125.metca15-a27.

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