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Characterizing the Major Structural Variant Alleles of the Human Genome
Authors:Peter A. Audano  Arvis Sulovari  Tina A. Graves-Lindsay  Stuart Cantsilieris  Melanie Sorensen  AnneMarie E. Welch  Max L. Dougherty  Bradley J. Nelson  Ankeeta Shah  Susan K. Dutcher  Wesley C. Warren  Vincent Magrini  Sean D. McGrath  Yang I. Li  Richard K. Wilson  Evan E. Eichler
Affiliation:1. Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA;2. McDonnell Genome Institute, Department of Genetics, Washington University School of Medicine, St. Louis, MO 63108, USA;3. Committee on Genetics, Genomics, and Systems Biology, University of Chicago, Chicago, IL 60637, USA;4. Institute for Genomic Medicine, Nationwide Children’s Hospital, Columbus, OH 43205, USA;5. The Ohio State University College of Medicine, Columbus, OH 43210, USA;6. Section of Genetic Medicine, University of Chicago, Chicago, IL 60637, USA;7. Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA;8. Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA
Abstract:
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  • Keywords:whole-genome sequence and assembly  single-molecule  real-time (SMRT) sequencing  structural variation  gap closure  major allele  human reference genome
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