Clinical utility of the low-density Infinium QC genotyping Array in a genomics-based diagnostics laboratory.

ABSTRACT:

Background

With 15,949 markers, the low-density Infinium QC Array-24 BeadChip enables linkage analysis, HLA haplotyping, fingerprinting, ethnicity determination, mitochondrial genome variations, blood groups and pharmacogenomics. It represents an attractive independent QC option for NGS-based diagnostic laboratories, and provides cost-efficient means for determining gender, ethnic ancestry, and sample kinships, that are important for data interpretation of NGS-based genetic tests.

Methods

We evaluated accuracy and reproducibility of Infinium QC genotyping calls by comparing them with genotyping data of the same samples from other genotyping platforms, whole genome/exome sequencing. Accuracy and robustness of determining gender, provenance, and kinships were assessed.

Resu

SUBMITTER: Ponomarenko P 

PROVIDER: S-EPMC5639583 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature