TITLE:

Whole Genome Sequencing in the Clinic

DATE:

Friday, September 22nd, 2017

TIME:

3:30 PM

LOCATION:

GMCS-314

SPEAKER:

Dr. Semyon Kruglyak, Director, Illumina, Inc.

ABSTRACT:

Rare and undiagnosed diseases cause great suffering to affected families and
create a disproportionate burden on the health system. A promising approach to
ending the diagnostic odyssey of the patient is to utilize whole genome sequencing
as a first line test for rare, genetic disease. In this talk, I will describe the
methods utilized in creating such a test, with a focus on variant calling. I will
then describe how these methods are used in practice.

HOST:

Dr. Jose Castillo

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