BIG-Annotator：基因组测序数据高效功能注释及其在遗传诊断中的应用

doi:10.16288/j.yczz.18-274

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Hereditas(Beijing) ›› 2018, Vol. 40 ›› Issue (11): 1015-1023.doi: 10.16288/j.yczz.18-274

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Application of BIG-Annotator in the genome sequencing data functional annotation and genetic diagnosis

Ying Huang^1,²,Qi Liu¹,Lianjiang Chi¹,Chengmin Shi¹,Zhen Wu¹,Min Hu³,Hong Shi⁴,Hua Chen^1,²()

^1. CAS Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China
^2. School of Future Technology, University of Chinese Academy of Sciences, Beijing 100094, China
^3. Yunnan Key Laboratory of Basic Research on Bone and Joint Diseases, Kunming 650214, China
^4. Institute of Primate Translational Medicine, Kunming University of Science and Technology, Kunming 650500, China

Received:2018-09-29 Revised:2018-11-02 Online:2018-11-20 Published:2018-11-06
Contact: Chen Hua E-mail:chenh@big.ac.cn
Supported by:
Supported by the National Natural Science Foundation of China(31571370);Supported by the National Natural Science Foundation of China(91631106);the “Hundred Talents Program” of Chinese Academy of Sciences

Abstract

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.

Key words: NGS, variant annotation, genetic diagnosis, precision medicine

Ying Huang,Qi Liu,Lianjiang Chi,Chengmin Shi,Zhen Wu,Min Hu,Hong Shi,Hua Chen. Application of BIG-Annotator in the genome sequencing data functional annotation and genetic diagnosis[J]. Hereditas(Beijing), 2018, 40(11): 1015-1023.

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Application of BIG-Annotator in the genome sequencing data functional annotation and genetic diagnosis

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