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Application of full-genome analysis to diagnose rare monogenic disorders.
Shieh, Joseph T; Penon-Portmann, Monica; Wong, Karen H Y; Levy-Sakin, Michal; Verghese, Michelle; Slavotinek, Anne; Gallagher, Renata C; Mendelsohn, Bryce A; Tenney, Jessica; Beleford, Daniah; Perry, Hazel; Chow, Stephen K; Sharo, Andrew G; Brenner, Steven E; Qi, Zhongxia; Yu, Jingwei; Klein, Ophir D; Martin, David; Kwok, Pui-Yan; Boffelli, Dario.
Afiliación
  • Shieh JT; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA. Joseph.shieh2@ucsf.edu.
  • Penon-Portmann M; Division of Medical Genetics, Pediatrics, Benioff Children's Hospital, University of California San Francisco, San Francisco, CA, USA. Joseph.shieh2@ucsf.edu.
  • Wong KHY; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
  • Levy-Sakin M; Division of Medical Genetics, Pediatrics, Benioff Children's Hospital, University of California San Francisco, San Francisco, CA, USA.
  • Verghese M; Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA.
  • Slavotinek A; Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA.
  • Gallagher RC; Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA.
  • Mendelsohn BA; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
  • Tenney J; Division of Medical Genetics, Pediatrics, Benioff Children's Hospital, University of California San Francisco, San Francisco, CA, USA.
  • Beleford D; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
  • Perry H; Division of Medical Genetics, Pediatrics, Benioff Children's Hospital, University of California San Francisco, San Francisco, CA, USA.
  • Chow SK; Division of Medical Genetics, Pediatrics, Benioff Children's Hospital, University of California San Francisco, San Francisco, CA, USA.
  • Sharo AG; Division of Medical Genetics, Pediatrics, Benioff Children's Hospital, University of California San Francisco, San Francisco, CA, USA.
  • Brenner SE; Division of Medical Genetics, Pediatrics, Benioff Children's Hospital, University of California San Francisco, San Francisco, CA, USA.
  • Qi Z; Division of Medical Genetics, Pediatrics, Benioff Children's Hospital, University of California San Francisco, San Francisco, CA, USA.
  • Yu J; Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA.
  • Klein OD; Biophysics Graduate Group, University of California Berkeley, Berkeley, CA, USA.
  • Martin D; Department of Plant and Microbial Biology, University of California Berkeley, Berkeley, CA, USA.
  • Kwok PY; Department of Laboratory Medicine, University of California San Francisco, San Francisco, CA, USA.
  • Boffelli D; Department of Laboratory Medicine, University of California San Francisco, San Francisco, CA, USA.
NPJ Genom Med ; 6(1): 77, 2021 Sep 23.
Article en En | MEDLINE | ID: mdl-34556655
ABSTRACT
Current genetic testenhancer and narrows the diagnostic intervals for rare diseases provide a diagnosis in only a modest proportion of cases. The Full-Genome Analysis method, FGA, combines long-range assembly and whole-genome sequencing to detect small variants, structural variants with breakpoint resolution, and phasing. We built a variant prioritization pipeline and tested FGA's utility for diagnosis of rare diseases in a clinical setting. FGA identified structural variants and small variants with an overall diagnostic yield of 40% (20 of 50 cases) and 35% in exome-negative cases (8 of 23 cases), 4 of these were structural variants. FGA detected and mapped structural variants that are missed by short reads, including non-coding duplication, and phased variants across long distances of more than 180 kb. With the prioritization algorithm, longer DNA technologies could replace multiple tests for monogenic disorders and expand the range of variants detected. Our study suggests that genomes produced from technologies like FGA can improve variant detection and provide higher resolution genome maps for future application.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies Idioma: En Revista: NPJ Genom Med Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies Idioma: En Revista: NPJ Genom Med Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos