Genotyping from targeted NGS data based on a small set of SNPs correctly matches patient samples.

ABSTRACT:

Objective

Mislabelling and swapping of laboratory samples are handling errors that can lead to erroneous interpretation of data and/or patient harm. Sequenced samples can be traced back to the respective donors by matching of single nucleotide polymorphisms (SNPs). Frameworks and software to do this have been developed for use with whole genome/exome sequencing data but not for targeted next-generation sequencing (tNGS), possibly due to the limited genomic coverage with tNGS and the need for individualization of the set of interrogated SNPs. We decided to adapt a popular tool for use with tNGS data, to demonstrate the possibility of selecting informative SNPs from a typical tNGS panel and to create an automated workflow for detection of sample handling errors.

Results

We com

SUBMITTER: Yosifov DY 

PROVIDER: S-EPMC12225085 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature