Article
A customized scaffolds approach for the detection and phasing of complex variants by next-generation sequencing.
Scientific reports - 14 Sept 2020
Zeng Qiandong, Leach Natalia T, Zhou Zhaoqing, Zhu Hui, Smith Jean A, Rosenblum Lynne S, Kenyon Angela, Heim Ruth A, Eisenberg Marcia, Letovsky Stanley, Okamoto Patricia M
Abstract excerpt
Next-generation sequencing (NGS) is widely used in genetic testing for the highly sensitive detection of single nucleotide changes and small insertions or deletions. However, detection and phasing of structural variants, especially in repetitive or homologous regions, can be problematic due to uneven read coverage or genome reference bias, resulting in false calls. To circumvent this challenge, a computational...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.