Comprehensive Structural Variant Detection: From Mosaic to Population-Level

Moritz Smolka; Luis F. Paulin; Christopher M. Grochowski; Medhat Mahmoud; Sairam Behera; Mira Gandhi; Karl Hong; Davut Pehlivan; Sonja W. Scholz; Claudia M.B. Carvalho; Christos Proukakis; Fritz J Sedlazeck

doi:10.1101/2022.04.04.487055

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Comprehensive Structural Variant Detection: From Mosaic to Population-Level

View ORCID ProfileMoritz Smolka, View ORCID ProfileLuis F. Paulin, View ORCID ProfileChristopher M. Grochowski, View ORCID ProfileMedhat Mahmoud, View ORCID ProfileSairam Behera, Mira Gandhi, View ORCID ProfileKarl Hong, View ORCID ProfileDavut Pehlivan, View ORCID ProfileSonja W. Scholz, View ORCID ProfileClaudia M.B. Carvalho, View ORCID ProfileChristos Proukakis, View ORCID ProfileFritz J Sedlazeck

doi: https://doi.org/10.1101/2022.04.04.487055

Moritz Smolka

1Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA

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Luis F. Paulin

1Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA

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Christopher M. Grochowski

2Department of Molecular and Human Genetics, Baylor College of Medicine, TX, USA

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Medhat Mahmoud

1Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA

2Department of Molecular and Human Genetics, Baylor College of Medicine, TX, USA

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Sairam Behera

1Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA

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Mira Gandhi

3Pacific Northwest Research Institute (PNRI), Seattle, USA

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Karl Hong

4Bionano Genomics, 9540 Towne Centre Dr #100, San Diego, USA

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Davut Pehlivan

2Department of Molecular and Human Genetics, Baylor College of Medicine, TX, USA

5Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA

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Sonja W. Scholz

6Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA

7Department of Neurology, Johns Hopkins University Medical Center, Baltimore, MD, USA

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Claudia M.B. Carvalho

2Department of Molecular and Human Genetics, Baylor College of Medicine, TX, USA

3Pacific Northwest Research Institute (PNRI), Seattle, USA

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Christos Proukakis

8Department of Clinical and Movement Neurosciences, Royal Free Campus, Queen Square Institute of Neurology, University College London, London, UK

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Fritz J Sedlazeck

1Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA

9Department of Computer Science, Rice University, 6100 Main Street, Houston, TX, USA

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For correspondence: fritz.sedlazeck@gmail.com

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Posted April 05, 2022.

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Comprehensive Structural Variant Detection: From Mosaic to Population-Level

Moritz Smolka, Luis F. Paulin, Christopher M. Grochowski, Medhat Mahmoud, Sairam Behera, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W. Scholz, Claudia M.B. Carvalho, Christos Proukakis, Fritz J Sedlazeck

bioRxiv 2022.04.04.487055; doi: https://doi.org/10.1101/2022.04.04.487055

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Comprehensive Structural Variant Detection: From Mosaic to Population-Level

bioRxiv 2022.04.04.487055; doi: https://doi.org/10.1101/2022.04.04.487055

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