Sequencing

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11th Annual Sequencing, Finishing, and Analysis in the Future Meeting ADVANCING MOLECULAR DIAGNOSTICS IN SUDDEN UNEXPLAINED DEATH A NEW YORK CITY EXPERIENCE Thursday, 2nd June 13:40 La Fonda Ballroom Talk (OS‐6.02) Yingying Tang New York City Office of Chief Medical Examiner (OCME) Sudden Unexplained Death (SUD) in previously healthy individuals is a vexing challenge facing forensic pathologists and a critical issue in public health today. SUD is a diagnostic exclusion which is defined as an undetermined cause of natural death after scene investigations, autopsy, and the review of past medical records. SUD is a critical issue that is not routinely investigated at molecular level. Powered with next‐generation sequencing technology, OCME evaluated the utility of molecular testing of a large number of genes in a well‐characterized and demographically diverse SUD cohort. I will present the results from that study to demonstrate the effectiveness and feasibility of molecular autopsy in a medical examiner setting. Furthermore, I will highlight the importance of family studies in clinical evaluation of high risk family members and function studies in enhancing our understanding of variants of uncertain significance, both type of studies are conducted through multi‐institutional and multi‐disciplinary collaborations. The feasibility and utility of broad molecular autopsy provides the first needed step in personalized diagnostics and precision preventive medicine for families of victims of SUD. 111
11th Annual Sequencing, Finishing, and Analysis in the Future Meeting ASSESSMENT OF SINGLE NUCLEOTIDE POLYMORPHISM (SNP) GENOTYPING CHEMISTRIES AND COMPARISON OF PHENOTYPIC AND ANCESTRY PREDICTION TOOLS FOR FORENSIC INVESTIGATIVE LEADS Thursday, 2nd June 14:00 La Fonda Ballroom Talk (OS‐6.03) Lilly Moreno, Michelle Galusha, Jodi Irwin Federal Bureau of Investigation Next Generation Sequencing kits for forensic applications have recently been commercialized and allow for concurrent amplification of a variety of markers, including hundreds of forensically relevant single nucleotide polymorphisms (SNPs). These SNPs could be useful not only for identification purposes but also in generating investigative leads for a variety of scenarios. As a complement to the chemistries, commercial data analysis packages have been developed to impart weight to the resulting genotypes and provide ancestry and phenotypic predictions. Thus far, however, the consistency and robustness of the raw data from these commercial assays have not been thoroughly examined, and the utility and reliability of the software tools have not been systematically tested. With SNP data for ancestry and phenotype from 100 samples, we analyzed the performance of the commercial chemistries. We also compared the SNP genotypes, as well as the ancestry and phenotype predictions, from different chemistry and software combinations to better understand and characterize the various workflows. Finally, by comparing the software predictions to the truth data for all 100 samples, we assessed the practical viability of these markers for aiding forensic investigations. The results of these studies will be presented. 112
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Sequencing

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