SPEAKER
Prof. Jean-Pierre KOCHER
Director of the Data Science and
Bioinformatics Programmes at Mayo
Clinic, Chair of the Division of Biomedical
Statistics and Informatics,
Vice Chair of the Department of
Health Sciences Research at Mayo
Clinic, Arizona (MCA) and Associate
Chair of the Department of Biomedical
Informatics at Arizona State University
(ASU)
HOST:
Department of Oncology
RESPONSIBLE LIH SCIENTISTS:
Francisco Azuaje
(francisco.azuaje@lih.lu)
www.lih.lu
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DEPLOYING LOW-COVERAGE WHOLE GENOME SEQUENCING
IN THE PRACTICE: A TRANSLATIONAL JOURNEY FROM
BIOINFORMATICS RESEARCH TO CLINICAL TEST
ABSTRACT
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Low-Coverage Whole Genome Sequencing
(LC-WGS) has recently be implemented in
clinical laboratories at Mayo is one of the
sequencing protocols that has been
translated into clinical applications. The
first successful test is the Non-Invasive
Prenatal Test that is becoming routinely
used to fetal trisomy
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detection. Other clinical applications are underway.
I will describe the analytical workflows
put in place to analyze LC-WGS data and
report trisomy. I will also describe how
the analytics has been extended to the
stratification of ovarian tumors. This new
application of LC-WGS is currently being
translated into a clinical test.
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