Mehrjoo et al. (2019) PLoS Genet 15(9): e1008385. 
This work is licensed under a Creative Commons Attribution 4.0 International License.

The focus of the group is on genetic epidemiology, population genetics and bioinformatics. It includes theoretical and methodological work as well as data analysis in collaborative projects. In particular, we cover the following topics:

Statistical methods development and application

Genetic and -omics data, such as generated by next-generation sequencing (NGS) and other platforms, cause a number of challenges to their analysis. This is due to their specifics, their quality, their frequently large size and their biological and medical interpretation. We develop novel methods for the single-layer as well as the integrative, multiple-layers statistical analysis of -omics data, such as genetic, epigenetic, transcriptional and metabolic data.

We apply these methods, alongside established ones, to data sets from ongoing biological and medical collaborations, with a focus on human data, including unrelated individuals as well as families.

 Selected publications

• Mohseni et al. (2021). Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran. Clin Genet, DOI: https://doi.org/10.1111/cge.13956
  https://pubmed.ncbi.nlm.nih.gov/33713422
• Quach et al. (2020). Expanding the genetic architecture of nicotine dependence and its shared genetics with multiple traits. Nat Comm, 11:5562. https://www.nature.com/articles/s41467-020-19265-z
• Kanoungi G, Nothnagel M, Drichel D, Becker T (2020) The exhaustive genomic scan approach, with an application to rare-variant association analysis  Eur J Hum Genet
• Zhao L et al (2019) A Rare Variant Nonparametric Linkage Method for Nuclear and Extended Pedigrees with Application to Late-Onset Alzheimer Disease via WGS Data. Am J Hum Genet
• Lerche H et al (2019) Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy. N Engl J Med
• Strnad P et al (2019) Heterozygous carriage of the alpha1-antitrypsin Pi*Z variant increases the risk to develop liver cirrhosis. Gut
• Niestroj LM et al (2018) Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies. Epilepsia
• May P et al. (2018) Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study. Lancet Neurol
• Kanoungi G, Nothnagel M (2018) Pathway-induced allelic spectra of diseases in the presence of strong genetic effects. Hum Genet
• Ng M et al. (2017) A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis. Am J Hum Genet
• Seemanova E et al. (2016) The Slavic NBN Founder Mutation: A Role for Reproductive Fitness? PLoS ONE
• Siegert S et al. (2015) Mutations Causing Complex Disease May under Certain Circumstances Be Protective in an Epidemiological Sense. PLoS One

A. Caliebe & M. Nothnagel, Topical Collection 'Genetic epidemiology of complex diseases: Impact of population history and modelling assumptions', Human Genetics.

Human population genetics and ancient DNA (aDNA) analysis

Identification of deleterious variation and harmful interactions requires an understanding of what is normal. Also,ancestry and relatedness of individuals form the background atop of which pathological changes occur. We are therefore interested in the analysis of human genetic data to empower in the interpretation of disease-related analysis results, but also to elucidate spatial and phylogeographic patterns of human genetic variation.

 Selected publications

• Villaescusa et al. A Y-chromosomal survey of Ecuador’s multi-ethnic population reveals new insights into the tri-partite population structure and supports an early Holocene age of the rare Native American founder lineage C3-MPB373. Forensic Sci Int Genet, Epub ahead of print. https://doi.org/10.1016/j.fsigen.2020.102427
• Nothnagel M (2020) Towards a fine-scale picture of European genetic diversity Eur J Hum Genet
• Mehrjoo Z. et al. (2019) Distinct genetic variation and heterogeneity of the Iranian population. PLoS Genet.
• Halle U et al. (2019) Die Unsichtbaren. Menschen mit Trisomie 21 in Archäologie und Anthropologie. Arch Inf, 42. Epub ahead of print.
• Krause-Kyora B et al. (2018) Ancient DNA study reveals HLA susceptibility locus for leprosy in medieval Europeans Nat Commun
• Nothnagel M et al. (2017) Revisiting the male genetic landscape of China: a multi-center study of almost 38,000 Y-STR haplotypes Human Genetics

Forensic statistics.

Automation of marker genotyping and novel types of genetic markers in forensic statistics potentially offer new options for kinship testing, identification of individuals and other purposes. As a minor focus of the group, we aim at addressing statistical issues in forensic applications.

 Selected publications

• Katsara et al. (2020) Testing the impact of trait prevalence priors in Bayesian-based genetic prediction modeling of human appearance traits. Forensic Sci Int Genet, Epub ahead of print. https://doi.org/10.1016/j.fsigen.2020.102412
• Katsara MA et al. (2019) True colors: A literature review on the spatial distribution of eye and hair pigmentation. Forensic Sci Int Genet
• Diegoli TM et al. (2016) Genetic mapping of 15 human X chromosomal forensic short tandem repeat (STR) loci by means of multi-core parallelization. Forensic Sci Int Genet
• Siegert S et al. (2015) Shannon's equivocation for forensic Y-STR marker selection. Forensic Sci Int Genet.
• Purps J & Siegert S, et al. (2014) A global analysis of Y-chromosomal haplotype diversity for 23 STR loci. Forensic Science International: Genetics