Validation of saliva as an alternative specimen for detecting hereditary breast-cancer mutations by next-generation sequencing
Meghnani et al.
The finding, in our words
ORAcollect saliva matched blood at 97.9% overall variant concordance on a hereditary-cancer NGS panel, rising to 100% for protein-coding variants, supporting self-collected saliva for germline testing.
A paraphrase to the Library’s standard, never the abstract. The source is one link away and is always the authority.
With Oragene DISCOVER self-collection, saliva SNP-array genotypes matched blood at 99.996% concordance; about 6% of samples failed on low yield, so an occasional repeat should be expected.
Oragene-stabilised saliva DNA agreed with blood at 98.7% of called markers on a pharmacogenetic array; saliva's lower overall call rate tracked its variable human-DNA content.
This study found that a decontamination pipeline using metagenome-assembled genomes improves the accuracy of variant calling from saliva samples, showing superior concordance with blood-derived results compared to conventional methods. These results validate the potential of self-collected oral samples for accurate personal genotyping.
Telomere length measurements vary significantly depending on the sample type used, with Oragene saliva showing a moderate correlation to venous buffy coat, whereas Oasis saliva and dried blood spots did not yield comparable or adequate results for this assay.
The homeRNA capillary blood collection and stabilization platform successfully captured lipopolysaccharide-induced inflammatory gene expression profiles. These transcriptomic responses were comparable to those obtained from traditional venous blood samples stabilized with RNAlater or PAXgene, demonstrating the platform's suitability for remote transcriptomic monitoring.