Ontology highlight
ABSTRACT:
SUBMITTER: Liu X
PROVIDER: S-EPMC7712761 | biostudies-literature | 2020 Oct
REPOSITORIES: biostudies-literature
Liu Xiaoming X Cragun Deborah D Pang Jinyong J Adapa Swamy R SR Fonseca Renee R Jiang Rays H Y RHY
Journal of personalized medicine 20201023 4
We have entered an era of direct-to-consumer (DTC) genomics. Patients have relayed many success stories of DTC genomics about finding causal mutations of genetic diseases before showing any symptoms and taking precautions. However, consumers may also take unnecessary medical actions based on false alarms of "pathogenic alleles". The severity of this problem is not well known. Using publicly available data, we compared DTC microarray genotyping data with deep-sequencing data of 5 individuals and ...[more]