Chapter 19 - Bioinformatic tools for interrogating DNA recovered from human skeletal remains

Abstract

It may often appear as though anthropological and/or historical substrates offer little-to-no genetic information due to profile incompleteness. Minimal genotype data may limit the weight of evidence for these items, but it is by no means prohibitive. This chapter describes the wealth of information that may be garnered from genetic data. Though these tools perform optimally with complete genetic data, many, if not all, of these tools still provide statistical weight to DNA evidence in the absence of complete genetic data. This chapter describes a brief overview of (i) relevant marker types and how they may be used bioinformatically, (ii) file types used to store, transmit, and use bioinformatic tools, (iii) tools for extracting genotype information from these file types, (iv) bioinformatic tools for using genotype data to make inferences and conclusions about human identification, general biogeographic ancestry, maternal and paternal lineages, and outwardly visible characteristics.