Avni B. Santani
Director in the Division of Genomic Diagnostics at Children's Hospital of Philadelphia
Title: CLINICAL EXOME SEQUENCING IN PEDIATRICS: CHALLENGES AND OPPORTUNITIES
Biography
Biography: Avni B. Santani
Abstract
With the explosion of genomic information and novel gene discoveries, clinical laboratories are faced with critical challenges in facilitating sensitive data interpretation. In particular, laboratories are faced with developing strategies that can incorporate data in the interpretation of genetic variants and review variants over time.
Dr. Santani will share insights in the integration of NGS data in clinical diagnostics, using exome sequencing as an example. She will address the development of a comprehensive interpretation pipeline for exome sequencing, discuss challenges with data interpretation, and present case studies from the exome sequencing program at Children’s Hospital of Philadelphia