P726: Provenance/identity testing in genome sequencing: A single institution’s experience

The increasing use of genome sequencing (GS) as a first-tier diagnostic tool for pediatric and adolescent individuals with suspected genetic conditions has brought significant improvements in diagnostic accuracy and efficiency. However, issues related to sample integrity, such as identity mismatches (sample swap), sample contamination, and incidental findings (eg, misattributed parentage (MP) in duo/trio testing), remain a challenge for clinical laboratories. To address these issues, clinical laboratories are required to establish stringent quality control (QC) measures in sample handling and provenance to ensure accurate bioinformatics processing and integrity of identity throughout the testing process.

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Publication Details

Journal
Genetics in Medicine Open
Published
2025-01-01
DOI
https://doi.org/10.1016/j.gimo.2025.103095
Primary Topic
Scientific Computing and Data Management
Type
article
Field-Weighted Citation Impact
0.00
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article

P726: Provenance/identity testing in genome sequencing: A single institution’s experience

Vijayakumar Jayaraman, Melanie Babcock, Jason P. Garee, Daniel C. Koboldt et al.
Genetics in Medicine Open
Scientific Computing and Data Management
article

P726: Provenance/identity testing in genome sequencing: A single institution’s experience

Vijayakumar Jayaraman, Melanie Babcock, Jason P. Garee, Daniel C. Koboldt, Ying‐Chen Claire Hou, Benjamin Kelly, Mariam Mathew, Aimee McKinney, Don Corsmeier, Gregory Wheeler, Catherine E. Cottrell, Marco L. Leung, Vruti Mehta, Theodora Matthews, Jesse M. Hunter, Spencer Ravagnani, Kathleen M. Schieffer, Fang Fang, Tessa Gonzalez, Vanessa L. Horner, Heather Jenkins
article en

Abstract

The increasing use of genome sequencing (GS) as a first-tier diagnostic tool for pediatric and adolescent individuals with suspected genetic conditions has brought significant improvements in diagnostic accuracy and efficiency. However, issues related to sample integrity, such as identity mismatches (sample swap), sample contamination, and incidental findings (eg, misattributed parentage (MP) in duo/trio testing), remain a challenge for clinical laboratories. To address these issues, clinical laboratories are required to establish stringent quality control (QC) measures in sample handling and provenance to ensure accurate bioinformatics processing and integrity of identity throughout the testing process.

Genetics in Medicine OpenVol. 3
Nationwide Children's Hospital (US), The Ohio State University (US)
Openalex Percentile: Top 95%
Scientific Computing and Data Management
DOIOpen Access PDFOpenAlex
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P726: Provenance/identity testing in genome sequencing: A single institution’s experience — Vijayakumar Jayaraman, Melanie Babcock, et al. · Genetics in Medicine Open (2025) | TGRS Research Map | TGRS