- An informatics approach to analyzing the incidentalomeJonathan S Berg
Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA
Genet Med 15:36-44. 2013..We therefore implemented for the first time a strategy that utilizes an a priori structured framework and a conservative threshold for selecting clinically relevant incidental findings...
- Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testingJonathan S Berg
Departments of Genetics, The University of North Carolina Chapel Hill, North Carolina 27599 7264, USA
Genet Med 13:218-29. 2011..The objective of this study was to investigate the performance characteristics of exon-capture technology coupled with massively parallel sequencing for clinical diagnostic evaluation...
- Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesiaMichael R Knowles
Department of Medicine, UNC School of Medicine, Chapel Hill, NC 27599, USA
Am J Hum Genet 92:99-106. 2013..These results revealed that mutations in CCDC114 are a cause of ciliary dysmotility and PCD and further demonstrate the utility of exome sequencing to identify genetic causes in heterogeneous recessive disorders...