Opportunities and challenges of whole-genome and -exome sequencing
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- 作者：Britt-Sabina Petersen ; Broder Fredrich ; Marc P. Hoeppner ; David Ellinghaus…
- 关键词：Whole ; genome sequencing ; WGS ; Whole ; exome sequencing ; WES ; Next ; generation sequencing ; NGS ; Complex diseases ; Inflammatory bowel diseases ; Variant priorization ; Variants of unknown significance (VUS)
- 刊名：BMC Genetics
- 出版年：2017
- 出版时间：December 2017
- 年：2017
- 卷：18
- 期：1
- 全文大小：1192KB
- 刊物主题：Life Sciences, general; Animal Genetics and Genomics; Microbial Genetics and Genomics; Plant Genetics & Genomics; Genetics and Population Dynamics;
- 出版者：BioMed Central
- ISSN：1471-2156
- 卷排序：18
文摘
Recent advances in the development of sequencing technologies provide researchers with unprecedented possibilities for genetic analyses. In this review, we will discuss the history of genetic studies and the progress driven by next-generation sequencing (NGS), using complex inflammatory bowel diseases as an example. We focus on the opportunities, but also challenges that researchers are facing when working with NGS data to unravel the genetic causes underlying diseases.