DNA Forensics

Advances in DNA profiling technologies are enabling faster and more accurate results, in some cases moving procedures from the lab to the crime scene. Emerging tools such as next-generation sequencing are also creating new possibilities in forensic DNA investigation, but with that comes unfamiliar scientific and legal implications. Cambridge Healthtech Institute’s Inaugural DNA Forensics event will examine new technologies, changing policies, and trends in forensic DNA investigations. Special focus will be given to next-generation sequencing (NGS), including statistical analysis and interpretation of DNA profiles. Optimizing extraction techniques and isolation will also be addressed with an emphasis on challenging samples. Overall, this event aims to address existing bottlenecks while introducing solutions and new concepts in the DNA identification field.


7:30 am Main Conference Registration & Morning Coffee



8:30 Chairperson’s Opening Remarks

Kent Lohman, Ph.D., MRIGlobal

8:40 Best Practices for Using Genome in a Bottle Reference Materials to Benchmark Variant Calls

Justin_ZookJustin Zook, National Institute of Standards and Technology

NIST has hosted the Genome in a Bottle Consortium to develop well-characterized human genomes to enable benchmarking of variant calls. We also are working with the Global Alliance for Genomics and Health Benchmarking Team to develop tools to calculate standardized performance metrics when comparing variant calls to our benchmark samples. I will discuss our well-characterized genomes and how to use them to benchmark variant call accuracy, and important considerations for clinical laboratories.

9:10 NGS in Clinical Diagnosis: Aspects of Quality Management

Pinar Bayrak-Toydemir, M.D., Ph.D., FACMG, Associate Professor, Pathology, University of Utah; Medical Director, Molecular Genetics and Genomics, ARUP Laboratories

Next-generation sequencing (NGS) technologies continue to be improved in clinical laboratories, enabling rapid transformations in genomic medicine. NGS could be an extensive process both at the wet bench and bioinformatics levels. Quality assurance steps including how to detect sample switch, alignment and variant calling algorithms for in-dels, and necessity for Sanger sequencing confirmation will be discussed using interesting clinical cases.

9:40 Thorough Validation and Implementation of Preimplantation Genetic Screening for Aneuploidy by NGS

Rebekah_ZimmermanRebekah Zimmerman, Ph.D., Laboratory Director, Clinical Genetics, Foundation for Embryonic Competence

We have developed and validated a targeted NGS assay for whole chromosome aneuploidy that has comparable accuracy to qPCR, while improving cost and throughput limitations. Also of critical interest, we have explored limits of detection for mosaicism and segmental aneuploidy, which are two areas of major concern among the IVF community.

10:10 Coffee Break in the Exhibit Hall with Poster Viewing

10:10 Coffee Break in the Exhibit Hall with Poster Viewing



10:55 Chairperson’s Opening Remarks

11:00 Library Preparation for Next-Generation Sequencing

Joseph_RingJoseph 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.

Disclaimer: The opinions or assertions presented hereafter are the private views of the authors and should not be construed as official or as reflecting the views of the Department of Defense, its branches, the U.S. Army Medical Research and Materiel Command or the Armed Forces Medical Examiner System.


11:30 Interpretational Issues Involving the Use of Massively Parallel DNA Sequencing in Forensic Science

Mark Wilson, Ph.D., Research Leader, Applied Genomics, Battelle Memorial Institute

The advent of massively parallel DNA sequencing into forensic casework requires that some current approaches to the interpretation of DNA data be reevaluated. This presentation will focus on the two major classes of human DNA markers used in forensic typing: short tandem repeats and mitochondrial DNA. The use of whole genome microbial DNA sequencing will also be discussed from the perspective of DNA profile comparisons and their proper interpretation.

12:00 Massively Parallel Sequencing in Forensic Genetics

Niels_MorlingNiels Morling, Ph.D., Professor, Director, Department of Forensic Medicine, Faculty of Health and Medical Science, University of Copenhagen

Massively Parallel Sequencing (MPS) can sequence the majority of the key forensic genetic systems and new markers in advanced forensic investigations. MPS offers a large amount of information concerning identity, ancestry, physical traits, etc., from minute amounts of DNA in one or a few investigations. Nomenclature of sequenced STRs, data analysis, pitfalls, and an example of ISO 17025 accreditation of MPS SNP typing will be discussed.

illumina NEW12:30 pm Accelerating Implementation of the NGS MiSeq FGx System

Meghan Didier, Senior, Forensic Scientist, Illumina

With the advent of next-generation sequencing (NGS) technology in the forensic DNA community, internal validation studies of the MiSeq FGxTM Forensic Genomics System are warranted. Illumina offers flexible levels of internal validation assistance to ease the burden on laboratories as they make the transition to NGS technology. A team of forensic experts provide valuable training and knowledge to accelerate the NGS learning curve, ensure full understanding of system data, and expedite implementation for casework operations.

1:00 Luncheon Presentation (Sponsorship Opportunity Available) or Enjoy Lunch on Your Own

1:30 Refreshment and Cookie Break in the Exhibit Hall with Poster Viewing


2:00 Chairperson’s Remarks

2:05 Next-Generation Sequencing in Forensic Science: The Legal Path Forward

Ted_HuntTed R. Hunt, Chief Trial Attorney, Prosecuting Attorney’s Office, Jackson County (Kansas City, Missouri)

The ability of Next Generation Sequencing to provide usable information from low level, degraded, and mixed samples collected from crime scenes can be a transformative force in forensic science. However, the full potential of this technology will not be realized without a clear legal path forward. This presentation will discuss the current state of the law, possible challenges, and legal strategies for the implementation of Next Generation Sequencing in forensic science and its admissibility in criminal cases.



2:35 Rapid DNA Typing: Applications to Human Identification

Erica Romsos, MFS, Forensic Scientist, Biomolecular Measurement Division, Applied Genetics, NIST

Advancements of all of the processes for the forensic DNA typing process is a challenging goal, but has shown to be possible in recent years. Several parallel efforts have been made to develop a device which will incorporate all of the forensic workflow and utilize a simple swab in, answer out process. Rapid DNA typing advancements will be discussed.

3:05 Rapid DNA Analysis in Practice: NDIS Approval and System Capabilities

Richard F. Selden, M.D., Ph.D., Founder and Chairman, NetBio

Rapid DNA analysis has the potential to dramatically improve societal safety through its use in law enforcement and military applications. Towards this end, NetBio has developed the ANDE system, a fully automated, field-forward, Rapid DNA Analysis System that produces STR profiles in ~90 minutes with no manual processing steps. This presentation will focus on the Rapid DNA processing of blood, tissue, and a range of casework samples using the 27-locus FlexPlex assay and on NDIS approval of the system for buccal swab analysis.

3:35 Next-Generation Technology under Development for Rapid, Comprehensive DNA Analysis

Bruce R. McCord, Ph.D., Professor, Analytical/Forensic Chemistry, Florida International University

4:05 Refreshment Break in the Exhibit Hall with Poster Viewing


Shared with 6A: Clinical NGS Assays

4:50 PANEL DISCUSSION: Whole Exome vs. Whole Genome

Moderator: Kent Lohman, Ph.D., MRIGlobal

Panelists: Avni B. Santani, Ph.D., Director, Genomic Diagnostics, Pathology and Lab Medicine, The Children’s Hospital of Philadelphia

Justin Zook, National Institute of Standards and Technology

Slone Partners 5:50 Wine & Cheese Pairing Welcome Reception in the Exhibit Hall with Poster Viewing

6:50 Close of Day


7:15 am Registration

7:30 Problem-Solving Breakout Discussions withContinental Breakfast


8:25 Chairperson’s Remarks

8:30 NGS mtDNA Genome Capture: A Novel Method for Getting DNA from Chemically Modified Forensic Samples

Timothy P. McMahon, Ph.D., Deputy Director of Forensic Services; Contractor; ARP Sciences LLC, a Division of ARP Supporting the Armed Forces Medical Examiner System

The Armed Forces DNA Identification Laboratory, a division of the Armed Forces Medical Examiner, performs DNA testing for the identification of deceased service members. This presentation will discuss the development and optimization of forensic extraction and analysis methods as well as the implementation of a novel mtDNA massively parallel sequencing assay for chemically modified samples, which have increased AFDIL’s ability to obtain DNA results from highly degraded samples.

9:00 Applications of STR DNA Analysis for Forensic Casework: The Wisconsin Way

Vincent_PurperoVincent M. Purpero, Ph.D., Forensic Scientist and Senior DNA Analyst, Wisconsin State Crime Laboratory, Division of Law Enforcement Services, Wisconsin Department of Justice

The workflow for generating an STR DNA profile at the Wisconsin State Crime Laboratory consists of: screening evidence, extraction, quantification, amplification and capillary electrophoresis. The WSCL has fully automated this process from extraction to DNA profile. The WSCL also utilizes Y-STR DNA technology when a statistically significant autosomal STR DNA profile is not achieved. Some casework examples illustrate different methods applied to generate statistically reliable STR DNA profiles.

9:00 Allelic Dropout and the Impact on Estimating the Number of Contributors of Low-Level, Complex DNA Mixtures

Catherine_GrgicakCatherine M. Grgicak, Ph.D., Assistant Professor, Program in Biomedical Forensic Sciences, Boston University School of Medicine

Computing the number of contributors (NOC) that could explain the evidence is common in forensic DNA analysis. Thus, the impact of dropout on estimating the NOC was assessed by varying the probability of dropout (Pr(D)) in simulated mixtures. Results show that estimating the actual NOC using allele counts was unreliable for mixtures with 1) greater than two contributors, or 2) low-template minor contributors. Gross underestimations were regularly observed.

9:30 Mixture Interpretation Software – Implementing Innovative Software Solutions in a Fast-Paced Crime Laboratory Setting

Kenneth_JonesKenneth Jones, Trace/Biology Unit Supervisor, Forensic Services Division- Forensic Biology Section, Baltimore Police Department

Forensic DNA analysis continues to evolve with the advent of advanced technologies and increased testing sensitivity, creating large amounts of complex data. Laboratories must adjust their processes and procedures to address this data and the resulting interpretation challenges, particularly mixed samples. The implementation of mixture interpretation software helps address these challenges. The use of TrueAllele, a probabilistic genotyping software, is reviewed, as well as the impact on laboratory operations.

10:00 Probabilistic Genotyping

Speaker to be Announced

10:30 Coffee Break in the Exhibit Hall with Poster Viewing

11:15 PLENARY KEYNOTE SESSION: Click here for details

12:50 pm Luncheon Presentation (Sponsorship Opportunity Available) or Enjoy Lunch on Your Own

1:20 Close of DNA Forensics

1:25 Ice Cream and Cookie Break in the Exhibit Hall with Poster Viewing