Forensic STR Genomics: Sequence variation and nomenclature resources (HALF DAY)
Presenters: Katherine Gettings
Date and Time: Monday August 29th, 2 PM – 6 PM *New Time
Description: This workshop will introduce attendees to autosomal, X and Y STR sequencing, with a target audience of students and practitioners having minimal sequencing experience or background knowledge. The workshop will be divided into three modules: 1) Anatomy of an STR Locus, 2) STR Sequencing and Analysis Methods, and 3) STR Sequencing Nomenclature Resources.
In the first module, we will use example loci to explore the concepts of sequence representation through bracketing (e.g. [GATA]8, considering historical precedent and evolving, modern guidance) and short designator systems. Then we will venture out into the flanking regions to find examples of SNPs and Indels, exemplifying their role in concordance between both length- and sequence-based assays. We will also explore minimum and kit-specific sequencing ranges and issues of CE backward compatibility.
In the second module, we will consider historical STR sequencing challenges and the benefits of modern sequencing platforms. We will learn about commercial STR sequencing assays and bioinformatic tools designed specifically for the forensic community. We will explore interpretation issues specific to STR sequencing, and additional quality control measures which may be useful.
In the third module, we will discuss the proliferation of STR population sequence data, and present resources for recommended STR sequence formatting and allele frequency data. These will include the STRSeq BioProject managed by NIST and hosted by NCBI, the STRidER allele frequency database, efforts to develop tools to convert STR sequence strings to various formats, and resources supporting the characterization of non-traditional STR loci.
Finally, we will end by discussing and contextualizing upcoming talks on STR sequencing in the main session, so that attendees will have a firm foundation for the coming days.