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Next-generation sequencing (NGS) appears to be the promise of our time, offering quick and easy answers in research and diagnostics. However, standard approaches to genetics are often disregarded, leading to quality issues in routine diagnostics, genetic counseling, and appropriate patient care. Here we list examples of how overestimating the capabilities of NGS and ignoring cytogenetic results can hinder diagnostics and even research. In an ideal world, this should and could easily be avoided through sound training of skilled workers.

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Next Generation Sequencing Should Consider Molecular Cytogenetic Results

  • 实验方案

  • 发表日期：

    2026年

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  • Thomas Liehr

摘要

Next-generation sequencing (NGS) appears to be the promise of our time, offering quick and easy answers in research and diagnostics. However, standard approaches to genetics are often disregarded, leading to quality issues in routine diagnostics, genetic counseling, and appropriate patient care. Here we list examples of how overestimating the capabilities of NGS and ignoring cytogenetic results can hinder diagnostics and even research. In an ideal world, this should and could easily be avoided through sound training of skilled workers.