ThermoFisher Scientific Symposium
Wednesday, 11 September 2019, 12:30 - 13:20
12:30 Welcome and Introduction to our Integrated Human Identification Solutions
Vice-President and General Manager, Human Identification Business, Thermo Fisher Scientific, San Francisco, US
12:40 Internal Validation study of the Applied Biosystems™ NGM Detect™ kit
Agnieszka Parys-Proszek, Maria Wróbel, Tomasz Kupiec
The Applied Biosystems™ NGM Detect™ kit contains modifications consisting of changing the primers’ sequences, rearrangement of STR markers and increasing DNA input volume. Therefore NGM Detect can be used as a supplemental system for the analysis of challenging samples when incomplete profiles are generated with kits routinely used in forensic practice. Another new feature are two internal quality control markers which allow detecting inhibition and degradation. This study shows validation experiments and results of analysis of challenging samples with the Applied Biosystems™ NGM Detect™ and GlobalFiler™ kits.
13:00 Internal Validation of the Applied Biosystems™ RapidHIT™ ID System in casework samples
Ten.Col. CC RT inv. sc. Andrea Berti
Reparto Carabinieri Investigazioni Scientifiche di Roma – Sezione di Biologia, Rome, Italy.
The Applied Biosystems™ RapidHIT™ ID System is an integrate system, simple-to-use, capable to produces lab-quality forensic DNA profiles in as little as 90 minutes. The system is actually proposed for the analysis of reference sample or high concentrated samples. We started an internal validation in order to accreditate RapidHIT ID System for ISO/IEC 17025. Over 100 samples (mock and real casework) were collected in the Lab. The sample set included blood, saliva, semen and touch DNA spotted on different matrix. The samples were processed either with Rapid DNA and standard CE internal procedure. The profiles were compared in terms of accuracy, completeness and stochastic effects such as drop out or drop in. AT an ST thresholds were also calculated for the Applied Biosystems™ GeneMapper ID-X analysis using STR-validator software. The results obtained will be shown during the presentation.
For more details on Thermo Fisher Scientific activities during ISFG2019 and registration to this symposium please visit thermofisher.com/isfg2019
Wednesday, 11 September 2019, 13:30 - 14:20
Development of a large, massively parallel sequencing SNP panel for missing persons identification
Thomas J. Parsons is the Director of Science and Technology at the International Commission on Missing Persons (ICMP). He supervises a large technical staff in a multidisciplinary approach to location and identification of the missing through imagery, forensic archaeology, anthropology, pathology, bioinformatics and high throughput DNA analysis. Current development at the ICMP laboratory focuses on optimal massively parallel sequencing approaches to missing persons DNA identification. The ICMP has assisted with the DNA-based identification of nearly 20,000 persons, and works on missing persons cases globally. Dr. Parsons has coordinated provision of extensive DNA and other forensic science evidence to the International Criminal Tribunal for Yugoslavia (ICTY) and other courts, and testified on multiple occasions for the ICTY in The Hague.
Thomas J. Parsons will discuss how the ICMP has developed a DNA identification system based on optimized HTP nuclear STR of unidentified skeletal remains, coupled with kinship matching to large databases of family reference profiles. Working on some 20,000 DNA-led identifications from various contexts around the world, two major limitations stood out – fragment size limitation imposed by highly degraded DNA on the ability to recover STRs and the need for multiple close relatives to achieve significant kinship matches in large database searches. To address these limitations, ICMP has been working with QIAGEN to design a Massively Parallel Sequencing (MPS) assay (MPSplex), targeting over 1200 SNP loci. The assay is based on QIAGEN’s QIAseq chemistry using Unique Molecular Indices (UMIs), that tag the original DNA molecules represented in the library. Overall, the power and sensitivity of the assay significantly expands the range of missing persons cases that can be solved by forensic genetics.
Thomas will be joined by Ingrid Gudmundsson from Sweden. Ingrid is an ambassador for the families of the missing, and will give us her perspective on how ICMP’s work on human identification has helped find the closure she was looking for. We would be honored by her presence.
Thursday, 12 September 2019, 12:30 - 13:20
Streamlined Workflows for Forensic DNA Extraction and Analysis
The Latest Advances in STR Analysis and the Forensics Workflow from Promega – 15 min
Stefan Kutranov, Promega UK, Delta House Southampton Science Park, Enterprise Rd, Southampton SO16 7NS, UK
In this presentation, Dr. Kutranov will discuss Promega’s newest product offerings designed to improve laboratory efficiencies through workflow enhancements. His presentation will also include insights for using Promega products and tips for maximizing success with challenging samples.
An Evaluation of Casework Direct Kit, Custom for Forensic Trace Samples – 15 min
Gro Bjørnstad, Oslo University Hospital, Department of Forensic Biology, P.O. Box 4950 Nydalen, 0424 Oslo, Norway
We recently evaluated Promega’s Casework Direct Kit, Custom for DNA extraction from various casework samples, and compared its performance to Chelex extraction. The kit has further been validated for trace samples containing blood and epithelium. Our experiences using the kit will be discussed.
Validation Studies with the Maxwell® RSC 48 Instrument – 15 min
Dr. Richard Zehner, Institute of legal Medicine, University of Frankfurt, Kennedyallee 104, 60596 Frankfurt, Germany
The Maxwell® RSC 48 Instrument uses an automated workflow to purify DNA from preprocessed liquid or solid samples. In forensic labs the instrument often runs in conjunction with the Maxwell® FSC DNA IQ™ Casework Kit to generate highly purified DNA for STR analysis.
Prior to the introduction of an instrument for casework analysis, it must be validated. Beyond offering proof of the sound handling of the instrument, a validation study can demonstrate the general pertinence of the system. Promega has performed validation studies which demonstrate its general qualification for forensic analysis. However, this does not release each individual laboratory from performing its own validation studies with those sample types usually being investigated in the laboratory.
The lecture will show some of the Frankfurt Lab validation studies and discusses which parameters may be worth an individual validation beyond the manufacturer´s validation to mimic real conditions in processing casework samples in individual laboratories.