PMID- 32355290 OWN - NLM STAT- MEDLINE DCOM- 20210106 LR - 20210430 IS - 2045-2322 (Electronic) IS - 2045-2322 (Linking) VI - 10 IP - 1 DP - 2020 Apr 30 TI - Targeted analysis of polymorphic loci from low-coverage shotgun sequence data allows accurate genotyping of HLA genes in historical human populations. PG - 7339 LID - 10.1038/s41598-020-64312-w [doi] LID - 7339 AB - 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. FAU - Pierini, Federica AU - Pierini F AD - Research Group for Evolutionary Immunogenomics, Max Planck Institute for Evolutionary Biology, 24306, Ploen, Germany. AD - Universite Paris-Saclay, CNRS, Inria, Laboratoire de recherche en informatique, 91405, Orsay, France. FAU - Nutsua, Marcel AU - Nutsua M AD - Institute of Clinical Molecular Biology, Kiel University, 24105, Kiel, Germany. FAU - Bohme, Lisa AU - Bohme L AD - Institute of Clinical Molecular Biology, Kiel University, 24105, Kiel, Germany. FAU - Ozer, Onur AU - Ozer O AD - Research Group for Evolutionary Immunogenomics, Max Planck Institute for Evolutionary Biology, 24306, Ploen, Germany. FAU - Bonczarowska, Joanna AU - Bonczarowska J AD - Institute of Clinical Molecular Biology, Kiel University, 24105, Kiel, Germany. FAU - Susat, Julian AU - Susat J AD - Institute of Clinical Molecular Biology, Kiel University, 24105, Kiel, Germany. FAU - Franke, Andre AU - Franke A AD - Institute of Clinical Molecular Biology, Kiel University, 24105, Kiel, Germany. FAU - Nebel, Almut AU - Nebel A AD - Institute of Clinical Molecular Biology, Kiel University, 24105, Kiel, Germany. FAU - Krause-Kyora, Ben AU - Krause-Kyora B AD - Institute of Clinical Molecular Biology, Kiel University, 24105, Kiel, Germany. FAU - Lenz, Tobias L AU - Lenz TL AD - Research Group for Evolutionary Immunogenomics, Max Planck Institute for Evolutionary Biology, 24306, Ploen, Germany. lenz@post.harvard.edu. LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20200430 PL - England TA - Sci Rep JT - Scientific reports JID - 101563288 RN - 0 (DNA, Ancient) RN - 0 (Genetic Markers) RN - 0 (HLA Antigens) RN - 0 (Histocompatibility Antigens Class II) SB - IM MH - Alleles MH - DNA, Ancient/*analysis MH - Denmark MH - Genetic Markers MH - Genetics, Population MH - Genome, Human MH - *Genotype MH - HLA Antigens/*genetics MH - Haplotypes MH - *High-Throughput Nucleotide Sequencing MH - Histocompatibility Antigens Class II/*genetics MH - Humans MH - Pattern Recognition, Automated MH - *Polymorphism, Single Nucleotide PMC - PMC7193575 COIS- The authors declare no competing interests. EDAT- 2020/05/02 06:00 MHDA- 2021/01/07 06:00 PMCR- 2020/04/30 CRDT- 2020/05/02 06:00 PHST- 2019/12/12 00:00 [received] PHST- 2020/04/14 00:00 [accepted] PHST- 2020/05/02 06:00 [entrez] PHST- 2020/05/02 06:00 [pubmed] PHST- 2021/01/07 06:00 [medline] PHST- 2020/04/30 00:00 [pmc-release] AID - 10.1038/s41598-020-64312-w [pii] AID - 64312 [pii] AID - 10.1038/s41598-020-64312-w [doi] PST - epublish SO - Sci Rep. 2020 Apr 30;10(1):7339. doi: 10.1038/s41598-020-64312-w.