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J Med Oncl Ther 2017 | Volume 2 Issue 4
allied
academies
Oncology and Biomarkers Summit
November 27-28, 2017 | Atlanta, USA
Annual Congress on
W
e have developed MPseq all long-insert next-
generation sequencing approach for the detection of
genomic structural variants. SVA tools is a set of algorithms
to detect both chromosomal rearrangements and large
(>10kb) copy number variants (CNVs) in genome-wide
MPseq data. SVA tools can also predict disrupted genes and
gene fusions and characterize the genomic architecture of
complex rearrangements. SVA tools with MPseq provides
comprehensive and accurate whole-genome junction
detection with improved breakpoint resolution, compared to
karyotype FISH and CMA combined. Copy number variation
(CNV) is a common form of structural variation detected in
aberrant human genomes, such as those observed in cancer.
Cytogenetic techniques like chromosomal microarray (CMA)
are widely used in analyzing these structural variations. An
algorithm will also be presented, capable of performing
copy number analysis from mate-pair sequencing (MPseq)
data. The algorithm uses a step-wise procedure involving
normalization, segmentation and classification of the
sequencing data. The segmentation technique is novel in
that it is the first technique to combine both read depth and
discordant mate-pair reads to increase the sensitivity and
resolution of CNV calls. This allows for the classification step
to accurately calculate copy number.
Speaker Biography
George Vasmatzis is an Associate Professor in the Department of Molecular Medicine
and a Member of the Mayo Clinic Cancer Center, as well as the Co-Director of the
Biomarker Discovery Program, within the Center for Individualized Medicine. He
is also the Founder of a software company called WholeGenome. His research
program consists of bioinformatics specialists, molecular biologists, epidemiologists
and pathologists. This team has demonstrated success in discovery and translation
of several biomarkers as well as developing evidence-based models that should
help clinicians stratify (cancer) patients in order to provide each individual with the
appropriate care. With the recent advances in Next Generation Sequencing (NGS)
technologies, his laboratory has been engaging in massive sequencing to scan the
genome of cancer cells for abnormalities that can be used for clinical purposes such as
diagnosis and stratification of patients for optimal treatment. He has published papers
in Journal of Clinical Oncology, Cancer Research and BLOOD, further demonstrate our
discovery, validation and translation capabilities. Recently, Mayo Clinic has launched a
whole genome mate-pair sequencing test that was primarily developed by his program.
e:
Vasmatzis.George@mayo.eduGeorge Vasmatzis
Mayo Clinic, USA
Molecular karyotypes: SVA tools for junction detection and copy number variation
of genome-wide chromosomal rearrangements by mate-pair sequencing (MPseq)