PMC:6037202 / 53611-54932 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/6037202","sourcedb":"PMC","sourceid":"6037202","source_url":"https://www.ncbi.nlm.nih.gov/pmc/6037202","text":"Given the limited benefits of WGS over WES and panel analysis demonstrated in this study, a key advantage is the ability to prospectively or retrospectively interrogate regions that are not currently known to be clinically relevant. This includes novel CPGs (many of the P/LP variants in this analysis were detected because the gene or region was not available for testing at the time of consultation). WGS costs should therefore be considered in the context of possible future demand for re-investigation and the consequent resource burden required for this if the region of interest (including non-coding regions) is not sequenced in the first instance. Adequate systems for prioritizing and assessing the multitude of non-coding variants generated by WGS for clinical use do not yet exist.53 Consequently, few clinically non-coding variants are currently known, and we did not identify any of them in this analysis. However, evidence of regulatory elements that influence the expression of any given gene is accumulating,54 and high-throughput functional assays for studying them provide the opportunity to define diagnostically significant variants affecting CPGs.55 If this process were able to elucidate clinically relevant variants, the case for WGS as a first-line investigative tool would become more compelling.","tracks":[{"project":"2_test","denotations":[{"id":"29909963-24618961-2051645","span":{"begin":792,"end":794},"obj":"24618961"},{"id":"29909963-22955616-2051646","span":{"begin":1024,"end":1026},"obj":"22955616"},{"id":"29909963-28213901-2051647","span":{"begin":1168,"end":1170},"obj":"28213901"}],"attributes":[{"subj":"29909963-24618961-2051645","pred":"source","obj":"2_test"},{"subj":"29909963-22955616-2051646","pred":"source","obj":"2_test"},{"subj":"29909963-28213901-2051647","pred":"source","obj":"2_test"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"2_test","color":"#c6ec93","default":true}]}]}}