Discovery and genotyping of structural variation from long-read haploid genome sequence data
نویسندگان
چکیده
1. Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA 2. Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA 3. McDonnell Genome Institute, Department of Medicine, Department of Genetics, Washington University School of Medicine, St. Louis, MO 63108, USA 4. Department of Pathology, University of Pittsburgh, Pittsburgh, PA 15261, USA 5. Pacific Biosciences of California, Inc., Menlo Park, CA 94025, USA
منابع مشابه
Corrigendum: Discovery and genotyping of structural variation from long-read haploid genome sequence data.
In an effort to more fully understand the full spectrum of human genetic variation, we generated deep single-molecule, real-time (SMRT) sequencing data from two haploid human genomes. By using an assembly-based approach (SMRT-SV), we systematically assessed each genome independently for structural variants (SVs) and indels resolving the sequence structure of 461,553 genetic variants from 2 bp t...
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