We are pleased to announce our next webcast, Identifying genetic variants associated with rare Mendelian Diseases. The live event is is scheduled for Wednesday, May 3rd at noon EST. Here are the specifics:
Wednesday, May 3rd
12:00 pm EST
Dr. Jingga Inlora is a postdoctoral fellow in the Snyder lab at Stanford University. In this webcast, Inlora will present on her team’s recent study focused on identifying genetic variants associated with rare Mendelian Diseases.
Recent advances in next-generation sequencing (NGS) technologies have brought a paradigm shift in how researchers investigate common and rare diseases. While whole genome sequencing remains costly, whole exome sequencing (WES) is less expensive and has recently been introduced into clinical practices such as disease treatment, screening and prenatal diagnosis. Recent success of WES has uncovered numerous disease-causing mutations and disease-predisposing variants throughout the genome.
Here we report four cases of Mendelian disorders observed in affected families. Using WES and bioinformatics techniques, we identified variants in each disease case, which co-segregates with the disease and are compatible with the phenotype.
Learn what variants were identified in the presentation!