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Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing
Authors:Xiao Chen  John Harting  Emily Farrow  Isabelle Thiffault  Dalia Kasperaviciute  Genomics England Research Consortium  Alexander Hoischen  Christian Gilissen  Tomi Pastinen  Michael A. Eberle
Affiliation:1. PacBio, Menlo Park, CA, USA;2. Genomic Medicine Center, Children’s Mercy Kansas City, Kansas City, MO, USA;3. UMKC School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA;4. Department of Pediatrics, Children’s Mercy Kansas City, Kansas City, MO, USA;5. Department of Pathology and Laboratory Medicine, Children’s Mercy Kansas City, Kansas City, MO, USA;6. Genomics England Ltd., London, UK;7. Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands;8. Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands;9. Radboud Center for Infectious Diseases (RCI), Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands;10. Radboud Expertise Center for Immunodeficiency and Autoinflammation and Radboud Center for Infectious Disease (RCI), Radboud University Medical Center, Nijmegen, the Netherlands
Abstract:
Keywords:spinal muscular atrophy  long-read sequencing  genomics  bioinformatics  carrier screening  segmental duplications  genetic diseases  PacBio HiFi  copy number variations  homologous genes
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