The diagnostic rate is highest when a trio is submitted and analyzed, as the inclusion of parental data improves the ability to classify variants. The absence of parental data may lead to higher rates of variants of unknown significance that could otherwise be dismissed based on inheritance patterns.
- Clark MM, Stark Z, Farnaes L, et al. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases. NPJ Genom Med. 2018 Jul 9;3:16. doi: 10.1038/s41525-018-0053-8. eCollection 2018.