Literature DB >> 33916923

Next Generation Sequencing Technology in the Clinic and Its Challenges.

Lau K Vestergaard1, Douglas N P Oliveira1, Claus K Høgdall2, Estrid V Høgdall1.   

Abstract

Data analysis has become a crucial aspect in clinical oncology to interpret output from next-generation sequencing-based testing. NGS being able to resolve billions of sequencing reactions in a few days has consequently increased the demand for tools to handle and analyze such large data sets. Many tools have been developed since the advent of NGS, featuring their own peculiarities. Increased awareness when interpreting alterations in the genome is therefore of utmost importance, as the same data using different tools can provide diverse outcomes. Hence, it is crucial to evaluate and validate bioinformatic pipelines in clinical settings. Moreover, personalized medicine implies treatment targeting efficacy of biological drugs for specific genomic alterations. Here, we focused on different sequencing technologies, features underlying the genome complexity, and bioinformatic tools that can impact the final annotation. Additionally, we discuss the clinical demand and design for implementing NGS.

Entities:  

Keywords:  alignment; bioinformatic pipeline; cancer; clinical application; next-generation sequencing; variant calling

Year:  2021        PMID: 33916923     DOI: 10.3390/cancers13081751

Source DB:  PubMed          Journal:  Cancers (Basel)        ISSN: 2072-6694            Impact factor:   6.639


  7 in total

Review 1.  Advanced Molecular and Immunological Diagnostic Methods to Detect SARS-CoV-2 Infection.

Authors:  John Charles Rotondo; Fernanda Martini; Martina Maritati; Elisabetta Caselli; Carla Enrica Gallenga; Matteo Guarino; Roberto De Giorgio; Chiara Mazziotta; Maria Letizia Tramarin; Giada Badiale; Mauro Tognon; Carlo Contini
Journal:  Microorganisms       Date:  2022-06-10

Review 2.  A Genomic Information Management System for Maintaining Healthy Genomic States and Application of Genomic Big Data in Clinical Research.

Authors:  Jeong-An Gim
Journal:  Int J Mol Sci       Date:  2022-05-25       Impact factor: 6.208

3.  Handling of targeted amplicon sequencing data focusing on index hopping and demultiplexing using a nested metabarcoding approach in ecology.

Authors:  Yasemin Guenay-Greunke; David A Bohan; Michael Traugott; Corinna Wallinger
Journal:  Sci Rep       Date:  2021-09-30       Impact factor: 4.379

Review 4.  Genetics Matters: Voyaging from the Past into the Future of Humanity and Sustainability.

Authors:  Acga Cheng; Jennifer Ann Harikrishna; Charles S Redwood; Lei Cheng Lit; Swapan K Nath; Kek Heng Chua
Journal:  Int J Mol Sci       Date:  2022-04-02       Impact factor: 6.208

5.  SPTSSA Is a Prognostic Marker for Glioblastoma Associated with Tumor-Infiltrating Immune Cells and Oxidative Stress.

Authors:  Ziheng Wang; Xinqi Ge; Jinlong Shi; Bing Lu; Xiaojin Zhang; Jianfei Huang
Journal:  Oxid Med Cell Longev       Date:  2022-08-24       Impact factor: 7.310

6.  Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract.

Authors:  Chen-Han Wilfred Wu; Tze Y Lim; Chunyan Wang; Steve Seltzsam; Bixia Zheng; Luca Schierbaum; Sophia Schneider; Nina Mann; Dervla M Connaughton; Makiko Nakayama; Amelie T van der Ven; Rufeng Dai; Caroline M Kolvenbach; Franziska Kause; Isabel Ottlewski; Natasa Stajic; Neveen A Soliman; Jameela A Kari; Sherif El Desoky; Hanan M Fathy; Danko Milosevic; Daniel Turudic; Muna Al Saffar; Hazem S Awad; Loai A Eid; Aravind Ramanathan; Prabha Senguttuvan; Shrikant M Mane; Richard S Lee; Stuart B Bauer; Weining Lu; Alina C Hilger; Velibor Tasic; Shirlee Shril; Simone Sanna-Cherchi; Friedhelm Hildebrandt
Journal:  Eur Urol Open Sci       Date:  2022-09-01

Review 7.  Zika Virus Infection During Research Vaccine Development: Investigation of the Laboratory-Acquired Infection via Nanopore Whole-Genome Sequencing.

Authors:  Eunsik Bang; Sujin Oh; Ho Eun Chang; Il Seob Shin; Kyoung Un Park; Eu Suk Kim
Journal:  Front Cell Infect Microbiol       Date:  2022-03-07       Impact factor: 5.293

  7 in total

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