INDELseek: detection of complex insertions and deletions from next-generation sequencing data
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- 作者：Chun Hang Au ; Anskar Y. H. Leung ; Ava Kwong ; Tsun Leung Chan…
- 关键词：Complex indel ; Variant calling ; Bioinformatics ; Next ; generation sequencing
- 刊名：BMC Genomics
- 出版年：2017
- 出版时间：December 2017
- 年：2017
- 卷：18
- 期：1
- 全文大小：858KB
- 刊物主题：Life Sciences, general; Microarrays; Proteomics; Animal Genetics and Genomics; Microbial Genetics and Genomics; Plant Genetics & Genomics;
- 出版者：BioMed Central
- ISSN：1471-2164
- 卷排序：18
文摘
BackgroundComplex insertions and deletions (indels) from next-generation sequencing (NGS) data were prone to escape detection by currently available variant callers as shown by large-scale human genomics studies. Somatic and germline complex indels in key disease driver genes could be missed in NGS-based genomics studies.