New Results
Identification of Pathogenic Structural Variants in Rare Disease Patients through Genome Sequencing
View ORCID ProfileJames M. Holt, Camille L. Birch, Donna M. Brown, Manavalan Gajapathy, Nadiya Sosonkina, View ORCID ProfileBrandon Wilk, Melissa A. Wilk, Rebecca C. Spillmann, View ORCID ProfileNicholas Stong, View ORCID ProfileHane Lee, Alden Y. Huang, View ORCID ProfileDevon Bonner, View ORCID ProfileJennefer N. Kohler, View ORCID ProfileEllen F. Macnamara, Undiagnosed Diseases Network, View ORCID ProfileStanley F. Nelson, View ORCID ProfileVandana Shashi, Elizabeth A. Worthey
doi: https://doi.org/10.1101/627661
James M. Holt
1HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA
Camille L. Birch
1HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA
Donna M. Brown
1HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA
Manavalan Gajapathy
1HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA
Nadiya Sosonkina
2University of Alabama at Birmingham, Department of Genetics, Birmingham, AL, USA
Brandon Wilk
1HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA
Melissa A. Wilk
1HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA
Rebecca C. Spillmann
3Duke University School of Medicine, Department of Pediatrics, Durham, NC, USA
Nicholas Stong
4Columbia University, Institute for Genomic Medicine, New York, NY, USA
Hane Lee
5University of California, Los Angeles, Department of Human Genetics, Los Angeles, CA, USA
6University of California, Los Angeles, Department of Pathology and Laboratory Medicine, Los Angeles, CA, USA
Alden Y. Huang
7University of California, Los Angeles, Institute for Precision Health, David Geffen School of Medicine, Los Angeles, CA, USA
Devon Bonner
8Stanford Center for Undiagnosed Diseases, Stanford, CA, USA
Jennefer N. Kohler
8Stanford Center for Undiagnosed Diseases, Stanford, CA, USA
Ellen F. Macnamara
9National Institutes of Health, Undiagnosed Diseases Program, Common Fund, Office of the Director, Bethesda, MD, USA
Stanley F. Nelson
5University of California, Los Angeles, Department of Human Genetics, Los Angeles, CA, USA
6University of California, Los Angeles, Department of Pathology and Laboratory Medicine, Los Angeles, CA, USA
Vandana Shashi
3Duke University School of Medicine, Department of Pediatrics, Durham, NC, USA
Elizabeth A. Worthey
1HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA
Posted May 15, 2019.
Identification of Pathogenic Structural Variants in Rare Disease Patients through Genome Sequencing
James M. Holt, Camille L. Birch, Donna M. Brown, Manavalan Gajapathy, Nadiya Sosonkina, Brandon Wilk, Melissa A. Wilk, Rebecca C. Spillmann, Nicholas Stong, Hane Lee, Alden Y. Huang, Devon Bonner, Jennefer N. Kohler, Ellen F. Macnamara, Undiagnosed Diseases Network, Stanley F. Nelson, Vandana Shashi, Elizabeth A. Worthey
bioRxiv 627661; doi: https://doi.org/10.1101/627661
Identification of Pathogenic Structural Variants in Rare Disease Patients through Genome Sequencing
James M. Holt, Camille L. Birch, Donna M. Brown, Manavalan Gajapathy, Nadiya Sosonkina, Brandon Wilk, Melissa A. Wilk, Rebecca C. Spillmann, Nicholas Stong, Hane Lee, Alden Y. Huang, Devon Bonner, Jennefer N. Kohler, Ellen F. Macnamara, Undiagnosed Diseases Network, Stanley F. Nelson, Vandana Shashi, Elizabeth A. Worthey
bioRxiv 627661; doi: https://doi.org/10.1101/627661
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