biostudies-literatureUnknown14Kumar ABiological material from the oral cavity is an excellent source of samples for genetic diagnostics. This is because collection is quick, easy-to-access, and non-invasive. We have set-up clinical whole genome sequence testing for patients with suspected hereditary disease. Beside the excellent quality of human DNA that can be isolated from such samples, we observed the presence of non-human DNA sequences at varying percentages. We investigated the proportion of non-human mapped reads (NHMR) sequenced from buccal swabs and saliva, the type of microbial genomes from which they were derived, and impact on molecular classification. Read sequences that did not map to the human reference genome were aligned to complete reference microbial reference sequences from the National Center for BiotechnoFrontiers in genetics1081424https://www.ebi.ac.uk/biostudies/studies/S-EPMC9941560biostudies-literatureMicrobial contamination and composition of oral samples subjected to clinical whole genome sequencing.PMC9941560Ameziane NBoettcher VOprea GHanig NRolfs AAtta JKumar ASkrahina VfalseMicrobial contamination and composition of oral samples subjected to clinical whole genome sequencing.Biological material from the oral cavity is an excellent source of samples for genetic diagnostics. This is because collection is quick, easy-to-access, and non-invasive. We have set-up clinical whole genome sequence testing for patients with suspected hereditary disease. Beside the excellent quality of human DNA that can be isolated from such samples, we observed the presence of non-human DNA sequences at varying percentages. We investigated the proportion of non-human mapped reads (NHMR) sequenced from buccal swabs and saliva, the type of microbial genomes from which they were derived, and impact on molecular classification. Read sequences that did not map to the human reference genome were aligned to complete reference microbial reference sequences from the National Center for Biotechno2023-01-01T00:00:00Z20232025-04-26T05:29:56.173Z2025-04-06T11:29:32.488ZS-EPMC99415603682443510.3389/fgene.2023.1081424