Applied Genomics: Next Generation Sequencing in the Clinical Field
Acute myeloid leukemia (AML) is a disease of the genome involving many genetic alterations for disease onset. Using next generation sequencing (NGS) data generated by the NCI TARGET project from pediatric AML patients, we have developed a novel pipeline for detection of SNVs and structural variants with enhanced data integration, visualization, and prioritization scoring to facilitate clinical understanding of the genetic data associated with the clinical phenotype. In a pilot study we analyzed six FLT3/ITD positive pediatric AML samples, with varying FLT3/ITD allelic ratios—and became the first group to detect the ITD sequence in NGS datasets previously only reported via PCR. A thorough analysis between the diagnosis and relapse sample has revealed several relapse-specific mutations. We have begun full-scale analysis of all TARGET AML whole genome and exome data from several hundred patients aiming to identify a pediatric AML specific diagnostic gene target list and relevant therapeutic genetic alterations.
Erin Crowgey is a PhD candidate at the University of Delaware, and is planning on joining Nemours Children’s Hospital as Associate Director of Bioinformatics in February of 2016. Her main area of research is pediatric AML, with a focus on analyzing and integrating next generation sequencing generated from ~800 AML patients.
The Innovative Discoveries Series, sponsored by the Delaware Clinical & Translational Science ACCEL program and the Christiana Care Value Institute, features informal presentations on topics relevant to current research and healthcare practice, led by knowledgeable and experienced presenters. There are offerings for researchers, healthcare providers, and community members of varying levels of experience.
These free talks are held Fridays at noon at Christiana Hospital but can be viewed from your home or office computer. Earn CMEs by participating in-person or online. Lunch is served and all are welcome to attend.
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Contact Sarahfaye Dolman at sarahfaye.f.dolman@christianacare.org with any questions.