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

Overview

Journal G3 (Bethesda)

Publisher Oxford University Press

Specialties Genetics
Molecular Biology

Date 2013 Nov 7

PMID 24192839

Citations 16

Authors

Andy Wing Chun Pang

Jeffrey R MacDonald

Ryan K C Yuen

Vanessa M Hayes

Stephen W Scherer

Affiliations

Soon will be listed here.

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.

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