Identification of genomic variants related to disease is crucial for diagnostics and clinical care especially in congenital disorders such as neurodevelopmental delay and autistic spectrum disorders. In the Talkowski laboratory, we are leveraging our analytical and statistical methods to generate a more complete picture of individual’s genomic variants and filter out those most likely to be involved in diseases, which can be translated into the clinical setting to aid physician diagnostics. As earlier diagnostics can help better aid in clinical intervention and treatment, we have translated these studies into the prenatal setting. Our research has shown that we can use next-generation sequencing techniques to more fully capture prenatal pathogenic variants than traditional methods such as karyotyping and chromosomal microarrays. We continue to advance this field by investigating safer and more accurate prenatal diagnostics using cutting edge techniques (such as cell-free fetal DNA analysis) that harness the power of our unique genomic analysis. This process will enable physicians to make more accurate diagnostic interpretation in those born with congenital disorders.