Targeted analysis of polymorphic loci from low-coverage shotgun sequence data allows accurate genotyping of HLA genes in historical human populations.

Authors:
Federica Pierini, Marcel Nutsua, Lisa Böhme, Onur Özer, Joanna Bonczarowska, Julian Susat, Andre Franke, Almut Nebel, Ben Krause-Kyora, Tobias L Lenz
Year of publication:
2020
Volume:
10
Issue:
1
Issn:
2045-2322
Journal title abbreviated:
SCI REP-UK
Journal title long:
Scientific Reports
Impact factor:
3.998
Abstract:
The highly polymorphic human leukocyte antigen (HLA) plays a crucial role in adaptive immunity and is associated with various complex diseases. Accurate analysis of HLA genes using ancient DNA (aDNA) data is crucial for understanding their role in human adaptation to pathogens. Here, we describe the TARGT pipeline for targeted analysis of polymorphic loci from low-coverage shotgun sequence data. The pipeline was successfully applied to medieval aDNA samples and validated using both simulated aDNA and modern empirical sequence data from the 1000 Genomes Project. Thus the TARGT pipeline enables accurate analysis of HLA polymorphisms in historical (and modern) human populations.