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Updated: Sep 15, 2025

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

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通过下一代测序揭示了儿科骨髓增殖新生体中的遗传变异

Chang-Hun Park, Heyjin Kim, Boram Kim

    Clinical laboratory
    |July 15, 2025
    PubMed
    概括

    儿科骨髓增殖性瘤 (MPNs) 呈现出独特的遗传特征. 下一代测序显示,在儿童的基本血小板血 (ET) 中,驱动突变较少,在初级骨髓纤维化 (PMF) 中,多个非驱动突变较少.

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    Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

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    Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens09:33

    Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

    Published on: August 25, 2023

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    相关概念视频

    Comparing Copy Number Variations and SNPs02:26

    Comparing Copy Number Variations and SNPs

    Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
    Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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    Next-generation Sequencing03:00

    Next-generation Sequencing

    The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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    Although all next-generation methods use different technologies, they all share a set of standard features....
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