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Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek, Anne; Rego, Shannon; Sahin-Hodoglugil, Nuriye; Kvale, Mark; Lianoglou, Billie; Yip, Tiffany; Hoban, Hannah; Outram, Simon; Anguiano, Beatrice; Chen, Flavia; Michelson, Jeremy; Cilio, Roberta M; Curry, Cynthia; Gallagher, Renata C; Gardner, Marisa; Kuperman, Rachel; Mendelsohn, Bryce; Sherr, Elliott; Shieh, Joseph; Strober, Jonathan; Tam, Allison; Tenney, Jessica; Weiss, William; Whittle, Amy; Chin, Garrett; Faubel, Amanda; Prasad, Hannah; Mavura, Yusuph; Van Ziffle, Jessica; Devine, W Patrick; Hodoglugil, Ugur; Martin, Pierre-Marie; Sparks, Teresa N; Koenig, Barbara; Ackerman, Sara; Risch, Neil; Kwok, Pui-Yan; Norton, Mary E.
Afiliação
  • Slavotinek A; Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA. anne.slavotinek@cchmc.org.
  • Rego S; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA. anne.slavotinek@cchmc.org.
  • Sahin-Hodoglugil N; Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.
  • Kvale M; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
  • Lianoglou B; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
  • Yip T; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
  • Hoban H; Department of Epidemiology & Biostatistics, University of California San Francisco, San Francisco, CA, USA.
  • Outram S; Department of Surgery, University of California, San Francisco, San Francisco, CA, USA.
  • Anguiano B; Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.
  • Chen F; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
  • Michelson J; Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.
  • Cilio RM; Institute for Health & Aging, School of Nursing, University of California San Francisco, San Francisco, CA, USA.
  • Curry C; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
  • Gallagher RC; Institute for Health & Aging, School of Nursing, University of California San Francisco, San Francisco, CA, USA.
  • Gardner M; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
  • Kuperman R; Institute of Human Nutrition, Columbia University Medical Center, New York, NY, USA.
  • Mendelsohn B; Division of Pediatric Neurology, Department of Pediatrics, University of Louvain, Brussels, Belgium.
  • Sherr E; Genetic Medicine, University of California, San Francisco, Fresno, CA, USA.
  • Shieh J; Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.
  • Strober J; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
  • Tam A; Department of Neurology, UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.
  • Tenney J; Department of Neurology, UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.
  • Weiss W; Eysz, Inc, Piedmont, CA, USA.
  • Whittle A; Division of Genetics, Kaiser Permanente Oakland Medical Center, Oakland, CA, USA.
  • Chin G; Division of Child Neurology, Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.
  • Faubel A; Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.
  • Prasad H; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
  • Mavura Y; Division of Child Neurology, Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.
  • Van Ziffle J; Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.
  • Devine WP; Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.
  • Hodoglugil U; Division of Child Neurology, Zuckerberg San Francisco General Hospital, San Francisco, San Francisco, CA, USA.
  • Martin PM; Division of Pediatrics, Zuckerberg San Francisco General Hospital, San Francisco, San Francisco, CA, USA.
  • Sparks TN; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
  • Koenig B; Department of Surgery, University of California, San Francisco, San Francisco, CA, USA.
  • Ackerman S; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
  • Risch N; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
  • Kwok PY; Department of Epidemiology & Biostatistics, University of California San Francisco, San Francisco, CA, USA.
  • Norton ME; Department of Pathology, University of California San Francisco, San Francisco, CA, USA.
NPJ Genom Med ; 8(1): 10, 2023 May 26.
Article em En | MEDLINE | ID: mdl-37236975
ABSTRACT
The diagnostic yield of exome sequencing (ES) has primarily been evaluated in individuals of European ancestry, with less focus on underrepresented minority (URM) and underserved (US) patients. We evaluated the diagnostic yield of ES in a cohort of predominantly US and URM pediatric and prenatal patients suspected to have a genetic disorder. Eligible pediatric patients had multiple congenital anomalies and/or neurocognitive disabilities and prenatal patients had one or more structural anomalies, disorders of fetal growth, or fetal effusions. URM and US patients were prioritized for enrollment and underwent ES at a single academic center. We identified definitive positive or probable positive results in 201/845 (23.8%) patients, with a significantly higher diagnostic rate in pediatric (26.7%) compared to prenatal patients (19.0%) (P = 0.01). For both pediatric and prenatal patients, the diagnostic yield and frequency of inconclusive findings did not differ significantly between URM and non-URM patients or between patients with US status and those without US status. Our results demonstrate a similar diagnostic yield of ES between prenatal and pediatric URM/US patients and non-URM/US patients for positive and inconclusive results. These data support the use of ES to identify clinically relevant variants in patients from diverse populations.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies Idioma: En Revista: NPJ Genom Med Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies Idioma: En Revista: NPJ Genom Med Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos