Related Experiment Video
Updated: Jul 4, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Recovering Misidentified Samples Through Genetic Discordance Clustering
Jesse Huang1,2, Ingrid Kockum1,2,3, Pernilla Stridh1,2,3
1Center of Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden.
Abstract:
The many logistical and technical challenges associated with sample and data handling in largescale genotyping studies can increase the risk of sample misidentification, which may compromise subsequent analyses. However, the standard quality assurance methods typical for large genotyping arrays can often be further utilized to identify and recover problematic samples. This article emphasizes the importance of identifying and correcting underlying sample misidentification rather than simply excluding known discrepancies, which may potentially include undetected issues. Lastly, we provide a screening protocol to complement standard quality assessments as a guideline for identifying mismatched samples and a tool for assessing the most common causes of sample misidentification. © 2024 The Authors. Current Protocols published by Wiley Periodicals LLC.
Related Concept Videos
Evolutionary Relationships through Genome Comparisons
Gene Conversion
Hybrid Zones
Nondisjunction
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...

