Clinical exome sequencing reports: current informatics practice and future opportunities.
The increased adoption of clinical whole exome sequencing (WES) has improved the diagnostic yield for patients with complex genetic conditions. However, the informatics practice for handling information contained in whole exome reports is still in its infancy, as evidenced by the lack of a common vocabulary within clinical sequencing reports generated across genetic laboratories. Genetic testing results are mostly transmitted using portable document format, which can make secondary analysis and [...]
Author(s): Swaminathan, Rajeswari, Huang, Yungui, Astbury, Caroline, Fitzgerald-Butt, Sara, Miller, Katherine, Cole, Justin, Bartlett, Christopher, Lin, Simon
DOI: 10.1093/jamia/ocx048