Knowledge Network Node
Hereditas. 2018, (11) Core

Application of BIG-Annotator in the genome sequencing data functional annotation and genetic diagnosisChinese Full Text

Ying Huang;Qi Liu;Lianjiang Chi;Chengmin Shi;Zhen Wu;Min Hu;Hong Shi;Hua Chen;CAS Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences;School of Future Technology, University of Chinese Academy of Sciences;Yunnan Key Laboratory of Basic Research on Bone and Joint Diseases;Institute of Primate Translational Medicine, Kunming University of Science and Technology;

Abstract: The next generation sequencing（NGS） technology has been playing important roles in genetic diagnosis of diseases in recent years, and serving as a technological basis of precision medicine. In analyzing NGS data, the variant annotation is an important step. In this study, we developed a computationally efficient software（BIG-Annotator） to perform functional annotation for whole-genome single nucleotide polymorphisms. BIG-Annotator integrates the widely used databases and pipelines for variant annotation of genetic diseases and tumors, and follows the 2015 ACMG-AMP Standard Guide for Interpretation and Reporting of Clinical Variants. BIG-Annotator is ten times faster than the existing software, and suitable for annotating genomic sequencing data from large samples. Here we present two analysis cases of genetic diagnosis using BIG-Annotator to show its applications.
Keywords：

NGS; variant annotation; genetic diagnosis; precision medicine;

  • DOI：

    10.16288/j.yczz.18-274

  • Series：

  • Subject：

  • Classification Code：

    Q811.4

Download the mobile appuse the app to scan this coderead the article.

Tips: Please download CAJViewer to view CAJ format full text.

Download: 135 Page: 1015-1023 Pagecount: 9 Size: 537K

Related Literature
  • Similar Article
  • Reader Recommendation
  • Associated Author