PRACTICAL CONSIDERATIONS FOR NGS DATA ANALYSIS AND INTERPRETATION
TUESDAY, AUGUST 21 | DINNER, 6:45 - 9:15 PM

Instructors:

Robert Daber, PhD, President and CTO, Genosity 

Matthew Lebo, PhD, FACMG, Director, Bioinformatics at Partners Personalized Medicine; Instructor, Pathology, Brigham and Women's and Harvard Medical School

Cabin John

ABOUT THIS COURSE:

Next-generation sequencing (NGS) - ranging from single gene assays to targeted panels to exomes and genomes - is now a staple of research, translational, and clinical genetics. The mass of data produced has enabled a wealth of new discoveries as well as highlighted new and existing challenges in analysis and interpretation. In this workshop, we will detail the process for transforming raw NGS data into downstream variant-level interpretation through case examples and detailing existing and emerging software. The workshop will describe both somatic and germline NGS informatics with a focus on the routine and practical implementation of this into laboratory processes. Along the way, we will highlight both common procedures and potential pitfalls.

Among the topics to be discussed in detail are:

• Alignment of raw NGS data
• Somatic and germline variant calling for SNVs, indels, and CNVs
• Estimating coverage and quality of the sequencing data
• NGS development and test validation
• Variant annotation methods
• Filtration of variants in exome and genome sequencing
• Variant interpretation procedures
• NGS in clinical laboratories: consent, reporting

INSTRUCTORS:

Robert Daber, PhD, President and CTO, Genosity 

Dr. Robert Daber is a board-certified geneticist with expertise in Genomics and Bio-Informatics and has spent much of his career building clinical Next Generation sequencing programs. He holds a PhD in Biochemistry and Molecular Biophysics from the University of Pennsylvania School of Medicine and received his clinical genomic training while a Fellow at the Children’s Hospital of Philadelphia. After completing his fellowship, he assembled a team that built and launched the Center for Personalized Diagnostics (CPD), a new Clinical Genomics laboratory focused on oncology Next Generation Sequencing at the University of Pennsylvania. During his tenure at the CPD, Bob was responsible for developing new assays and Informatic algorithms, deploying custom software tools to manage lab workflow (LIMS) and data review as well as case review and sign-out for a variety of tumor cases. After overseeing the laboratory for several years Bob moved on to build the tumor sequencing laboratory at BioReference. While building this program he also oversaw all NGS technical operations, created new Bio-informatics and Research and Development departments and eventually was placed in charge of NGS operations and R&D for both BioReference and its subsidiary GeneDx. During his career Bob has played an instrumental role developing broad genomic partnerships with health systems and has established a national reputation as an authority of all aspects of genomic operations including bioinformatics, operations, technology, regulatory affairs and best practices.

Matthew Lebo, Ph.D., FACMG, Director, Bioinformatics at Partners Personalized Medicine; Instructor, Pathology, Brigham and Women's and Harvard Medical School

Matthew Lebo, PhD, joined Partners Personalized Medicine as an Associate Laboratory Director for the Laboratory for Molecular Medicine in 2011, after completing his ABMG molecular genetics fellowship training at the Harvard Medical School Genetics Training Program. In the fall of 2013, he became the head of Bioinformatics at Partners Personalized Medicine.