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实施基于新一代测序的全长基因测序靶向方法。

Implementation of a next-generation sequencing-based targeted approach for full-length gene sequencing.

作者信息

Kivrane Agnija, Igumnova Viktorija, Kimsis Janis, Freimane Lauma, Sadovska Darja, Viksna Anda, Pole Ilva, Ranka Renate

机构信息

Latvian Biomedical Research and Study Centre, Ratsupites Street 1, k-1, Riga, LV1067, Latvia.

Riga Stradins University, Dzirciema Street 16, Riga, LV1007, Latvia.

出版信息

Pharmacogenomics. 2021 Jun;22(9):519-527. doi: 10.2217/pgs-2020-0128. Epub 2021 May 18.

Abstract

To evaluate the application of next-generation sequencing-based targeted protocol for full-length gene sequencing analysis. The developed sequencing protocol was applied to analyze human DNA samples (n = 7) obtained from tuberculosis patients admitted to the Riga East University Hospital, Center of Tuberculosis and Lung diseases. The sequencing data quality was sufficient for the detection of already known genetic variants, as well as for identifying rare and novel variants dispersed throughout the gene with a high degree of confidence. Developed protocol can be applied in subpopulation level association studies to determine whether specific genetic variants or variant combinations from multiple regions of the gene are of clinical significance.

摘要

为评估基于新一代测序的靶向方案在全长基因测序分析中的应用。将所开发的测序方案应用于分析从里加东部大学医院结核病与肺部疾病中心收治的结核病患者中获取的人类DNA样本(n = 7)。测序数据质量足以检测已知的基因变异,以及高度自信地识别分散在整个基因中的罕见和新型变异。所开发的方案可应用于亚群体水平的关联研究,以确定来自该基因多个区域的特定基因变异或变异组合是否具有临床意义。

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