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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Performance of high-throughput sequencing for the discovery of genetic variation across the complete size spectrum
G3: Genes, Genomes, Genetics, Volume 4, No. 1, Year 2014
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Description
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. © 2014 Pang et al.
Authors & Co-Authors
Yuen, Ryan K.C.
Canada, Toronto
Hospital for Sick Children University of Toronto
Hayes, Vanessa M.
United States, Rockville
J. Craig Venter Institute
Scherer, Stephen W.
Canada, Toronto
University of Toronto
Canada, Toronto
Hospital for Sick Children University of Toronto
Statistics
Citations: 28
Authors: 3
Affiliations: 3
Identifiers
Doi:
10.1534/g3.113.008797
ISSN:
21601836
Research Areas
Genetics And Genomics