Using whole-exome sequencing to identify variants inherited from mosaic parents.Whole-exome sequencing (WES) has allowed the discovery of genes and variants causing rare human disease.  We show the power of WES to identify a limited number of candidate genes using this disease model and how sequence coverage affects identification of mosaic variants by WES.  We propose this analysis as an alternative to discover genetic causes of rare human disorders for which typical WES approaches fail to identify likely pathogenic variants.
WES
Using whole-exome sequencing to identify variants inherited from mosaic parents.Whole-exome sequencing (WES) has allowed the discovery of genes and variants causing rare human disease.  We show the power of WES to identify a limited number of candidate genes using this disease model and how sequence coverage affects identification of mosaic variants by WES.  We propose this analysis as an alternative to discover genetic causes of rare human disorders for which typical WES approaches fail to identify likely pathogenic variants.
WES
Using whole-exome sequencing to identify variants inherited from mosaic parents.Whole-exome sequencing (WES) has allowed the discovery of genes and variants causing rare human disease.  We show the power of WES to identify a limited number of candidate genes using this disease model and how sequence coverage affects identification of mosaic variants by WES.  We propose this analysis as an alternative to discover genetic causes of rare human disorders for which typical WES approaches fail to identify likely pathogenic variants.
WES