Jonathan S Berg

Summary

Affiliation: University of North Carolina
Country: USA

Publications

  1. pmc An informatics approach to analyzing the incidentalome
    Jonathan S Berg
    Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA
    Genet Med 15:36-44. 2013
  2. pmc Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing
    Jonathan S Berg
    Departments of Genetics, The University of North Carolina Chapel Hill, North Carolina 27599 7264, USA
    Genet Med 13:218-29. 2011
  3. pmc Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia
    Michael R Knowles
    Department of Medicine, UNC School of Medicine, Chapel Hill, NC 27599, USA
    Am J Hum Genet 92:99-106. 2013

Detail Information

Publications3

  1. pmc An informatics approach to analyzing the incidentalome
    Jonathan 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...
  2. pmc Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing
    Jonathan 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...
  3. pmc Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia
    Michael 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...