This article on SNPs and SNVs in forensic science briefly reviews the use of rare variants to describe relatedness and population structure.
The utility of short tandem repeat genetic (STR) markers for forensic science is beyond question and there are over 50 million STR profiles in current national databases. The magnitude and value of those data, however, are likely to be dwarfed by what is emerging from large-scale SNP and DNA sequence assays. Phenotypic characterization may well accompany future statements about identity. In this very brief review, the authors focus on the use of rare variants to describe relatedness and population structure. They note that DNA sequencing is emerging as a disruptive technology for forensic science. The huge amount of information contained in a whole-genome sequence has substantial potential forensic benefit, although this is likely to require big-data types of analyses in which the aggregate data, rather individual variants, are of importance. Progress is likely to be rapid and substantial. (publisher abstract modified)