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Genetic Sex Validation for Sample Tracking in Clinical Testing.
Hu, Jianhong; Korchina, Viktoriya; Zouk, Hana; Harden, Maegan V; Murdock, David; Macbeth, Alyssa; Harrison, Steven M; Lennon, Niall; Kovar, Christie; Balasubramanian, Adithya; Zhang, Lan; Chandanavelli, Gauthami; Pasham, Divya; Rowley, Robb; Wiley, Ken; Smith, Maureen E; Gordon, Adam; Jarvik, Gail P; Sleiman, Patrick; Kelly, Melissa A; Bland, Harris T; Murugan, Mullai; Venner, Eric; Boerwinkle, Eric; Prows, Cynthia; Mahanta, Lisa; Rehm, Heidi L; Gibbs, Richard A; Muzny, Donna M.
Afiliación
  • Hu J; Baylor College of Medicine, Human Genome Sequencing Center (HGSC).
  • Korchina V; Baylor College of Medicine, Human Genome Sequencing Center (HGSC).
  • Zouk H; Laboratory for Molecular Medicine (LMM), Mass General Brigham.
  • Harden MV; Broad Institute of MIT and Harvard.
  • Murdock D; Baylor College of Medicine, Human Genome Sequencing Center (HGSC).
  • Macbeth A; Broad Institute of MIT and Harvard.
  • Harrison SM; Laboratory for Molecular Medicine (LMM), Mass General Brigham.
  • Lennon N; Broad Institute of MIT and Harvard.
  • Kovar C; Baylor College of Medicine, Human Genome Sequencing Center (HGSC).
  • Balasubramanian A; Baylor College of Medicine, Human Genome Sequencing Center (HGSC).
  • Zhang L; Baylor College of Medicine, Human Genome Sequencing Center (HGSC).
  • Chandanavelli G; Baylor College of Medicine, Human Genome Sequencing Center (HGSC).
  • Pasham D; Baylor College of Medicine, Human Genome Sequencing Center (HGSC).
  • Rowley R; National Human Genome Research Institute.
  • Wiley K; National Human Genome Research Institute.
  • Smith ME; Northwestern University Feinberg School of Medicine.
  • Gordon A; Northwestern University Feinberg School of Medicine.
  • Jarvik GP; University of Washington Medical Center.
  • Sleiman P; Children's Hospital of Philadelphia.
  • Kelly MA; Genomic Medicine Institute, Geisinger.
  • Bland HT; Vanderbilt University Medical Center.
  • Murugan M; Baylor College of Medicine, Human Genome Sequencing Center (HGSC).
  • Venner E; Baylor College of Medicine, Human Genome Sequencing Center (HGSC).
  • Boerwinkle E; Baylor College of Medicine, Human Genome Sequencing Center (HGSC).
  • Prows C; Cincinnati Children's Hospital Medical Center.
  • Mahanta L; Laboratory for Molecular Medicine (LMM), Mass General Brigham.
  • Rehm HL; Broad Institute of MIT and Harvard.
  • Gibbs RA; Baylor College of Medicine, Human Genome Sequencing Center (HGSC).
  • Muzny DM; Baylor College of Medicine, Human Genome Sequencing Center (HGSC).
Res Sq ; 2023 Sep 11.
Article en En | MEDLINE | ID: mdl-37790445
ABSTRACT

Objective:

Data from DNA genotyping via a 96-SNP panel in a study of 25,015 clinical samples were utilized for quality control and tracking of sample identity in a clinical sequencing network. The study aimed to demonstrate the value of both the precise SNP tracking and the utility of the panel for predicting the sex-by-genotype of the participants, to identify possible sample mix-ups.

Results:

Precise SNP tracking showed no sample swap errors within the clinical testing laboratories. In contrast, when comparing predicted sex-by-genotype to the provided sex on the test requisition, we identified 110 inconsistencies from 25,015 clinical samples (0.44%), that had occurred during sample collection or accessioning. The genetic sex predictions were confirmed using additional SNP sites in the sequencing data or high-density genotyping arrays. It was determined that discrepancies resulted from clerical errors, samples from transgender participants and stem cell or bone marrow transplant patients along with undetermined sample mix-ups.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: Res Sq Año: 2023 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: Res Sq Año: 2023 Tipo del documento: Article