Rapid and Automated Semiconductor-Based Next-Generation Sequencing for Simultaneous Detection of Somatic DNA and RNA Aberrations in Myeloid Neoplasms

Sande, Christopher M; Wu, Rui; Yang, Guang; Sussman, Robyn T.; Bigdeli, Ashkan; Rushton, Chase; Chitturi, Akshay; Patel, Jay P.; Szankasi, Philippe; Morrissette, Jennifer J.D.; Lim, Megan S.; Elenitoba-Johnson, Kojo SJ.

doi:10.1016/j.jmoldx.2022.11.005

Cited by 4 publications

(2 citation statements)

References 16 publications

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“…This is close system which delivers 32 paired (DNA and RNA) samples in a single run with high depth coverage of around 2000×, which eliminates the possibility of false results. Few studies have shown promising validation results on the Genexus platform, 64,65 but more critical evaluation comparing more panels can help in deriving definitive conclusion.…”

Section: Remarksmentioning

confidence: 99%

Acute Myeloid Leukemia and Next-Generation Sequencing Panels for Diagnosis: A Comprehensive Review

Chaudhary,

Ahmad

et al. 2024

Journal of Pediatric Hematology/Oncology

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Acute myeloid leukemia (AML) is a genetically heterogeneous clonal disorder characterized by the accumulation of acquired somatic genetic alterations in hematopoietic progenitor cells, which alter the normal mechanisms of self-renewal, proliferation, and differentiation. Due to significant technological advancements in sequencing technologies in the last 2 decades, classification and prognostic scoring of AML has been refined, and multiple guidelines are now available for the same. The authors have tried to summarize, latest guidelines for AML diagnosis, important markers associated, epigenetics markers, various AML fusions and their importance, etc. Review of literature suggests lack of study or comprehensive information about current NGS panels for AML diagnosis, genes and fusions covered, their technical know-how, etc. To solve this issue, the authors have tried to present detailed review about currently in use next-generation sequencing myeloid panels and their offerings.

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Section: Remarksmentioning

confidence: 99%

Acute Myeloid Leukemia and Next-Generation Sequencing Panels for Diagnosis: A Comprehensive Review

Chaudhary,

Ahmad

et al. 2024

Journal of Pediatric Hematology/Oncology

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“… 9 , 10 An adaptation of Thermo Fisher chemistry to the Genexus instrument has yielded a myeloid mutation assay that targets both RNA fusions and common DNA hotspots in AML, providing reports within 2-3 days. 11 We cannot describe these methodologies in detail here; interested readers are referred to the relevant literature.…”

Section: Introductionmentioning

confidence: 99%

Advances in next-generation sequencing and emerging technologies for hematologic malignancies

Kwon

Yeung

2023

haematol

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Innovations in molecular diagnostics have often evolved through the study of haematologic malignancies. Examples include the pioneering characterization of the Philadelphia chromosome by cytogenetics in the 1970s, the implementation of PCR for high-sensitivity detection and monitoring of mutations, and, most recent, targeted next-generation sequencing (NGS) to drive the prognostic and therapeutic assessment of leukaemia. Haematologists and haematopathologists continue to advance with new innovations in the past decade by improving the type, amount, and quality of data generated for each molecule of nucleic acid. In this review article, we will touch on these new developments and discuss their implications for diagnostics in haematopoietic malignancies. We will review advances in sequencing platforms and library preparation chemistry that can lead to faster turnaround times; novel sequencing techniques; the development of mobile labs with implications for worldwide benefits; the current status of sample types; improvements to quality and reference materials; bioinformatic pipelines; and the integration of machine learning and artificial intelligence into molecular diagnostic tools for haematologic malignancies.

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Analytical Validation of an Automated Semiconductor-Based Next-Generation Sequencing Assay for Detection of DNA and RNA Alterations in Myeloid Neoplasms

Zbieranski,

Insuasti-Beltran

2024

The Journal of Molecular Diagnostics

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Rapid and Automated Semiconductor-Based Next-Generation Sequencing for Simultaneous Detection of Somatic DNA and RNA Aberrations in Myeloid Neoplasms

Cited by 4 publications

References 16 publications

Acute Myeloid Leukemia and Next-Generation Sequencing Panels for Diagnosis: A Comprehensive Review

Acute Myeloid Leukemia and Next-Generation Sequencing Panels for Diagnosis: A Comprehensive Review

Advances in next-generation sequencing and emerging technologies for hematologic malignancies

Analytical Validation of an Automated Semiconductor-Based Next-Generation Sequencing Assay for Detection of DNA and RNA Alterations in Myeloid Neoplasms

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