Cambridge Healthtech Institute’s Second Annual
NGS for DNA Forensics
Addressing Technology, Implementation, and Validation Challenges for Next-Generation Forensics
August 18, 2017 | Grand Hyatt Washington | Washington, DC
While current technologies being used in the field of forensics are effective and efficient, next-generation sequencing is capable of ushering in a new era of DNA forensics. Cambridge Healthtech Institute’s 2nd Annual Next-Generation Sequencing for DNA Forensics forum will address this new technology, covering a comparison of platforms, how they work, and its advantages. Because NGS provides different and large quantities of data, this forum will also cover how to interpret the data, validate tests, and prepare libraries. Advantages and challenges in using NGS for mixtures, degraded samples, and various sample types will be discussed, as well as developing molecular markers and their advantages compared to conventional markers. Given that understanding, implementing, and using NGS – and presenting these findings in court – will take time and proper funding, a discussion on cost-effectiveness, forensic utility, and future directions will conclude the program. Forensic scientists, DNA analysts, forensic chemists, criminalists, medical examiners, and trial attorneys will all learn valuable information as the field continues to evolve.
Final Agenda
Recommended Short Course(s)*
SC20: Bioinformatics Bootcamp: NGS for Forensic Scientists
*Separate registration required
FRIDAY, AUGUST 18
8:00 am Registration & Morning Coffee
8:25 Chairperson’s Opening Remarks
Ted Robert Hunt, JD, Attorney, Office of General Counsel, FBI
8:30 CO-PRESENTATION: Introduction to Massively Parallel DNA Sequencing Technology: Chemistry and Applications in Forensic Investigations
Steven Lee, Professor, Justice Studies; Director, Forensic Science Justice Studies, San Jose State University
Rebecca Just, Ph.D., Visiting Scientist, DNA Support Unit, FBI Laboratory
One of the most significant advances in DNA technology in the last 20 years has been the introduction of next-generation sequencing (NGS) or massively parallel sequencing (MPS). Massively parallel sequencing (MPS) systems enable simultaneous analysis of forensically relevant genetic markers to improve efficiency, capacity, and resolution, and provide a dramatic improvement in the capabilities of forensic DNA laboratories to solve crimes. MPS provides the ability to generate results on nearly 10-fold more genetic loci than current technology. This talk will provide an introduction to and overview of MPS as well as resources for more information, and specific MPS chemistries and platforms.
9:30 Evaluation of Illumina’s MiSeq FGx Forensic Genomics System
Elisa Wurmbach, Ph.D., City Research Scientist, Forensic Biology, Office of Chief Medical Examiner, New York
Illumina’s MiSeq FGx Forensic Genomics System was evaluated by performing several experimental runs, in order to perform systematic analyses of single source samples. The evaluation included concordance, sensitivity, repeatability, and allele coverage ratios (i.e. the ratio of reads between heterozygote alleles). Data was analyzed to describe the quality of amplification and sequencing artifacts, such as stutter, typed allele drop in, as well as allele and locus drop out.
10:00 Session Q&A: What is NGS and How Does It Work?
Session Speakers
10:30 Coffee Break with Poster Viewing
11:00 FEATURED PRESENTATION: Comprehensive Read Analysis of Massively Parallel Sequence Data and Its Role in Forensic Casework Interpretation
Mark Wilson, Ph.D., Research Leader, Applied Genomics, Battelle Memorial Institute
Massively parallel sequencing (MPS) generates large quantities of sequence data in the form of individual sequence reads that are used in various fields of research as well as clinical applications. An assessment of the distribution of the reads that occur in an MPS run has implications to the ultimate validation of the use of MPS in forensic science. This depth of understanding adds depth and thoroughness to all subsequent analytical steps, greatly enhancing the power of MPS in human identification applications.
11:30 Library Preparation for Next-Generation Sequencing
Joseph Ring, MS, DNA Analyst, Emerging Technology Section-AFDIL, Contractor; ARP Sciences LLC a Division of ARP, Supporting the Armed Forces Medical Examiner System
Next-generation sequencing (NGS) is currently being evaluated within forensic laboratories due to its enhanced sensitivity and high throughput capacity. While NGS may be suitable for a range of casework and database applications, library preparation methods vary by sample quality and genetic information desired. This presentation will introduce a variety of target enrichment and library preparation strategies for sequencing STRs, SNPs and mitochondrial genomes from forensic and reference samples.
12:00 pm Popseq – The STR Sequence Diversity Database
Seth A. Faith, Ph.D., Assistant Professor, Forensic Sciences Institute, NC State University
Massively parallel or next-generation sequencing technologies are undergoing validations for the use in forensic DNA laboratories. Should this technology be applied to short tandem repeat (STR) analysis, the population frequencies of sequence-based STR alleles will need to be known for statistical conclusions of forensic samples. Thus, we have built an open source website for STR sequence data comprised of over 2000 samples and bioinformatics tools for self-service analytics.
12:30 Sponsored Presentation (Opportunity Available)
1:00 Luncheon Presentation (Sponsorship Opportunity Available) or Enjoy Lunch on Your Own
1:30 Session Break
2:00 Chairperson’s Remarks
Seth A. Faith, Ph.D., Assistant Professor, Forensic Sciences Institute, NC State University
2:05 Analysis of Nuclear SNP Markers and the Mitochondrial Genome Using a Novel Probe Capture Massively Parallel Sequencing Assay for Forensic Applications
Cassandra D. Calloway, Ph.D., Assistant Scientist and DNA Program Coordinator, Genetics and Genomics and Forensic Graduate Program, Children’s Hospital Oakland Research Institute and University of California, Davis
We have developed a probe capture assay targeting over 450 nuclear DNA SNPs and the entire mitochondrial genome for massively parallel sequencing of highly degraded and limited DNA samples as well as resolution of mixtures. We have applied the mtDNA assay to the analysis of hairs, bones and mixed DNA samples and the nuclear SNP probe capture panel to mock degraded and mixed DNA samples demonstrating utility for forensic applications.
2:35 Microhaplotypes, SNP-Based Markers for Typing by Massively Parallel Sequencing (MPS)
Kenneth K. Kidd, Ph.D., Professor Emeritus, Genetics, Yale University School of Medicine
Microhaplotypes have the potential to be very informative in (1) identification and deconvolution of mixtures of DNA, (2) identification of biological relationships, (3) identification of biogeographic ancestry, as well as (4) providing very small random match probabilities. Over 130 microhaplotype loci have been identified and characterized on 83 populations. MPS data using a multiplex of 36 of the best loci demonstrate empirically the power of these markers to identify mixtures.
3:05 Refreshment Break with Poster Viewing
3:35 The FBI’s Perspective on the Utility of NGS for Future Casework Application
Rebecca Just, Ph.D., Visiting Scientist, DNA Support Unit, FBI Laboratory
Given the potential of MPS to not only increase the quantity and discriminatory power of genetic data, but to also improve the overall throughput of samples through the laboratory, the Federal Bureau of Investigation is evaluating MPS assays for future casework application. Long-term laboratory efforts are directed towards employing MPS as a common platform for testing of all markers of forensic interest. However, near-term efforts are directed specifically towards evaluating the technology for its utility in expanding existing institutional capabilities. Here, we present an overview of our efforts.
4:05 PANEL DISCUSSION: Using NGS Results in Court: The Path to Admisssibility
Moderator:
Ted Robert Hunt, JD, Attorney, Office of General Counsel, FBI
The components of this panel discussion will include the legal requirements and scientific requisites for Massively Parallel Sequencing technology to be admitted in U.S. jurisdictions. The discussion will also address potential defense challenges to admissibility and possible legal and factual responses to those challenges. The discussion will also include best practices for preparation and litigation of admissibility hearings and courtroom testimony.
Panelists: Steven Lee, Professor, Justice Studies; Director, Forensic Science Justice Studies, San Jose State University
Rebecca Just, Ph.D., Visiting Scientist, DNA Support Unit, FBI Laboratory
Julie Conover Sikorsky, M.S., F-ABC, Forensic Biology Unit Manager, Palm Beach County Sheriff’s Office
4:35 Close of Symposia Programs