About this webinar

Recorded On: Wednesday, May 3, 2017

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.