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Methods and feasibility study for exome sequencing as a universal second-tier test in newborn screening.
Ruiz-Schultz, Nicole; Sant, David; Norcross, Stevie; Dansithong, Warunee; Hart, Kim; Asay, Bryce; Little, Jordan; Chung, Krystal; Oakeson, Kelly F; Young, Erin L; Eilbeck, Karen; Rohrwasser, Andreas.
Afiliação
  • Ruiz-Schultz N; Utah Public Health Laboratory, Salt Lake City, UT, USA.
  • Sant D; Department of Biomedical Informatics, University of Utah, Salt Lake City, UT, USA.
  • Norcross S; Utah Public Health Laboratory, Salt Lake City, UT, USA.
  • Dansithong W; Utah Public Health Laboratory, Salt Lake City, UT, USA.
  • Hart K; Utah Public Health Laboratory, Salt Lake City, UT, USA.
  • Asay B; Utah Public Health Laboratory, Salt Lake City, UT, USA.
  • Little J; Department of Biomedical Informatics, University of Utah, Salt Lake City, UT, USA.
  • Chung K; Department of Biomedical Informatics, University of Utah, Salt Lake City, UT, USA.
  • Oakeson KF; Utah Public Health Laboratory, Salt Lake City, UT, USA.
  • Young EL; Utah Public Health Laboratory, Salt Lake City, UT, USA.
  • Eilbeck K; Department of Biomedical Informatics, University of Utah, Salt Lake City, UT, USA.
  • Rohrwasser A; Utah Public Health Laboratory, Salt Lake City, UT, USA. arohrwasser@utah.gov.
Genet Med ; 23(4): 767-776, 2021 04.
Article em En | MEDLINE | ID: mdl-33442025

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies / Screening_studies Limite: Humans / Newborn Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies / Screening_studies Limite: Humans / Newborn Idioma: En Ano de publicação: 2021 Tipo de documento: Article