Jonathan S Berg
Affiliation: University of North Carolina
- 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...
- High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology SettingKristy Lee
Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina Electronic address
Am J Ophthalmol 160:354-363.e9. 2015..To assess the diagnostic yield and the practicality of implementing whole exome sequencing within a clinical ophthalmology setting...
- 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...
- How can psychological science inform research about genetic counseling for clinical genomic sequencing?Cynthia M Khan
Department of Health Behavior, University of North Carolina Chapel Hill, 312 Rosenau Hall, CB 7440, Chapel Hill, NC, 27599 7440, USA
J Genet Couns 24:193-204. 2015..results do and do not mean?; (2) How and by whom should genomic sequencing results be communicated to patients and their family members?; and (3) How do patients and their families respond to uncertainties related to genomic information? ..
- Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research ConsortiumJonathan S Berg
1 Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA 2 Carolina Center for Genome Sciences, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA 3 Center for Genomics and Society, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA 4 Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA
Genet Med 15:860-7. 2013..Genet Med 15 11, 860-867.Genetics in Medicine (2013); 15 11, 860-867. doi:10.1038/gim.2013.133. ..