Identifying genetic variants associated with rare Mendelian Diseases

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:

CNV Analysis in VarSeq

Wednesday, May 3rd
12:00 pm EST

Webcast Registration

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.

Abstract:
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!

Register at: https://attendee.gotowebinar.com/register/825201450831136259

Delaina Hawkins

About Delaina Hawkins

Delaina Hawkins is the Content Marketing Manager at Golden Helix, joining the team in June of 2017. She is passionate about the digital and social media landscape and elevating a company to effectively grow user engagement, build brand loyalty and ultimately drive sales and revenue. When she isn't in the office, she enjoys fishing, biking and spending time with family and friends.

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