Thank you to everyone who joined us yesterday for a webcast by Dr. Ken Kaufman of Cincinnati Children’s Hospital: “Identification of Candidate Functional Polymorphism Using Trio Family Whole Exome DNA Data.” Over 750 people registered for this event and 430 attended – a new Golden Helix record!

If you missed the webcast (or would like to watch it again), the recording is now available online:

If you have any follow-up questions for Dr. Kaufman, jet them over to [email protected], and we will make sure to get you in touch.

Thank you again to Dr. Kaufman and Cincinnati Children’s Hospital for conducting this webcast!

Stay tuned for more exciting webcasts to come in the later half of 2012!

ABSTRACT
Genome wide association studies have identified a number of genes important in complex diseases. However, these types of experiments often fail to identify rare polymorphisms that can play a role in the etiology of complex disease. Personalized genomics, using a trio study design (father, mother, and affected child) allows the identification of candidate novel and rare polymorphisms that have the potential to cause disease.

In this presentation, Dr. Kenneth Kaufman demonstrates the analysis of whole-exome DNA sequencing data from a family trio study. Typically, these studies generate ~100,000 variations per trio. In an advanced workflow, a combination of functional and sequence quality control measurements will be used to filter the DNA sequence data to obtain a small number of candidate de Novo, rare-recessively inherited, and compound heterozygous mutations.

In addition, Dr. Kaufman demonstrates how to use Golden Helix’s latest tool, GenomeBrowse and sequencing BAM files to decrease the number of false positive candidate polymorphisms.