Performance of High-Throughput Sequencing for the Discovery of Genetic Variation Across the Complete Size Spectrum

Abstract

We observed that current high-throughput sequencing approaches only detected a fraction of the full size-spectrum of insertions, deletions, and copy number variants compared with a previously published, Sanger-sequenced human genome. The sensitivity for detection was the lowest in the 100- to 10,000-bp size range, and at DNA repeats, with copy number gains harder to delineate than losses. We discuss strategies for discovering the full spectrum of genetic variation necessary for disease association studies.

DOI: 10.1534/g3.113.008797
01002002014201520162017
Citations per Year

122 Citations

Semantic Scholar estimates that this publication has 122 citations based on the available data.

See our FAQ for additional information.

Cite this paper

@inproceedings{Pang2014PerformanceOH, title={Performance of High-Throughput Sequencing for the Discovery of Genetic Variation Across the Complete Size Spectrum}, author={Andy Pang and Jeffrey R. MacDonald and Ryan K. C. Yuen and Vanessa M. Hayes and Stephen W. Scherer}, booktitle={G3}, year={2014} }