The Identification of a 1916 Irish Rebel: New Approach for Estimating Relatedness From Low Coverage Homozygous Genomes

• Autor(a) principal: Fernandes, Daniel
• Data de Publicação: 2017
• Outros Autores: Sirak, Kendra, Novak, Mario, Finarelli, John A., Byrne, John, Connolly, Edward, Carlsson, Jeanette E. L., Ferretti, Edmondo, Pinhasi, Ron, Carlsson, Jens
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://hdl.handle.net/10316/108388; https://doi.org/10.1038/srep41529
• topic: DNA Damage; DNA, Mitochondrial; Family; Genetics, Population; Haplotypes; History, 20th Century; Humans; Ireland; Polymorphism, Single Nucleotide; Sequence Analysis, DNA; White People; Genome, Human; Genomics; Homozygote

Thomas Kent was an Irish rebel who was executed by British forces in the aftermath of the Easter Rising armed insurrection of 1916 and buried in a shallow grave on Cork prison's grounds. In 2015, ninety-nine years after his death, a state funeral was offered to his living family to honor his role in the struggle for Irish independence. However, inaccuracies in record keeping did not allow the bodily remains that supposedly belonged to Kent to be identified with absolute certainty. Using a novel approach based on homozygous single nucleotide polymorphisms, we identified these remains to be those of Kent by comparing his genetic data to that of two known living relatives. As the DNA degradation found on Kent's DNA, characteristic of ancient DNA, rendered traditional methods of relatedness estimation unusable, we forced all loci homozygous, in a process we refer to as "forced homozygote approach". The results were confirmed using simulated data for different relatedness classes. We argue that this method provides a necessary alternative for relatedness estimations, not only in forensic analysis, but also in ancient DNA studies, where reduced amounts of genetic information can limit the application of traditional methods.