Molecular Genetics Core facility
Seminar
Mutation detection using next-gen sequencing
and novel bioinformatics systems, supported
by a knowledge base derived from the
Icelandic Sequencing Project
Speaker: Jeffrey Gulcher, MD., PhD. (Co-founder of deCODE Genetics)
Location: Karp 12 Conference room
One Blackfan Circle
Date: 1:00PM to 3:00 PM on Friday June 28th
In 2011, deCODE Genetics’ nationwide whole genome sequencing & analysis
project covering over 300,000 individuals was successfully completed. deCODE
has developed an effective solution designed for diagnostic applications and
clinical research using next-gen sequencing technologies. The foundation of
these capabilities consists of informatics systems and a knowledge base
representing 40 million validated variants. This workflow includes
 CLIA-, CAP- and ISO 13485-certified next-generation sequencing
 Alignment and variant calling calibrated based on the large cohorts
sequenced
 Fully-integrated informatics system to determine candidate mutations at
the sequence read level, powered by a novel Genome Ordered Relational
architecture
 Scalable data storage and management system to handle the “big data”
challenge
 Autosomal-recessive and de novo mutation workflows on the analysis of
challenging clinical cases, previously without a diagnosis.