We are actively developing molecular and computational pipelines for whole-genome sequencing in prenatal diagnostic practice. We previously performed the first clinical diagnosis of a prenatal sample by large-insert whole-genome sequencing, which identified a balanced translocation that disrupted CHD7, resulting in a predicted diagnosis of CHARGE syndrome that was confirmed by clinical features at birth. In another study, we identified chromothripsis by jumping library sequencing in a prenatal sample in collaboration with Dorothy Warburton and Michael Macera of Columbia University. Our laboratory is currently in the process of large-scale validation of whole-genome sequencing in routine prenatal genetic testing for structural variation through an NICHD R01. We are also developing methods to delineate the full mutational spectrum of structural variation from cell free fetal DNA sequencing.
Talkowski et al., 2012, NEJM
Macera et al., 2015, Prenatal Diagnostics