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Long Read Sequencing Applications to Elucidate the Genetic Basis of Human Disease

Wednesday, August 21, 2024
4:00am PDT
1 hour
C.E.U.: 1 Category 1 Contact Hour
P.A.C.E.: 1 Unit

This webinar will explore Long Read Sequencing (LRS) and how it’s being used to uncover germline genetic alterations associated with rare diseases and hereditary cancer. Technical details about the two main LRS technologies will be summarized and compared to short read sequencing and other conventional orthogonal clinical genetic testing methodologies. Examples of research projects utilizing LRS to elucidate previously unexplained cases will be presented. The integration of LRS in the clinic, challenges and opportunities will be discussed.

Level of Instruction: Basic-Intermediate

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Jessica Scott
Genomic Science Liaison at Ambry Genetics
Jessica Scott, MGC, CGC, is a Genomic Science Liaison at Ambry Genetics. Jessica obtained her undergraduate degree in Biology from Radford University in 2002 and graduated from the University of Maryland Master’s in Genetic Counseling (MGC) Training Program in 2005. She practiced clinically in various genetic counseling subspecialties for over fifteen years with a consistent […]

Jessica Scott, MGC, CGC, is a Genomic Science Liaison at Ambry Genetics. Jessica obtained her undergraduate degree in Biology from Radford University in 2002 and graduated from the University of Maryland Master’s in Genetic Counseling (MGC) Training Program in 2005. She practiced clinically in various genetic counseling subspecialties for over fifteen years with a consistent focus on oncology genetics before joining Ambry. Jessica has an interest in the continued education of genetic counselors; she remains actively engaged in the University of Maryland genetic counseling training program and is a coordinator of Ambry’s Case Café webinar series.