title: Development of Bioinformatics Pipeline for Analyzing Clinical Pediatric NGS Data.
abstract: Using an Illumina exome sequencing dataset generated from pediatric Acute Myeloid Leukemia patients (AML; type FLT3/ITD+) a comprehensive bioinformatics pipeline was developed to aid in a better clinical understanding of the genetic data associated with the clinical phenotype. The pipeline starts with raw next generation sequencing reads and using both publicly available resources and custom scripts, analyzes the genomic data for variants associated with pediatric AML. By incorporating functional information such as Gene Ontology annotation and protein-protein interactions, the methodology prioritizes genomic variants and returns disease specific results and knowledge maps. Furthermore, it compares the somatic mutations at diagnosis with the somatic mutations at relapse and outputs variants and functional annotations that are specific for the relapse state.
authors: Center for Bioinformatics & Computational Biology, University of Delaware, Newark, DE.
authors: Erin L
authors: EL
authors: Crowgey
authors: Nemours Alfred I. DuPont Hospital for Children, Wilmington, DE.
authors: Anders
authors: A
authors: Kolb
authors: Center for Bioinformatics & Computational Biology, University of Delaware, Newark, DE.
authors: Cathy H
authors: CH
authors: Wu