Sebastian Zoellner

The paper maps how local sequence context influences germline mutation rates using 1000 Genomes Project data, showing non-monotonic decay and higher-order interactions.

LoGicAl estimates ancestry-specific allele frequencies from admixed samples by accounting for uncertainty in local ancestry and genotype calling, improving accuracy and scalability.

The paper analyzes expression and splicing quantitative trait loci (e/sQTL) across multiple tissues in the TOPMed dataset and finds that secondary e/sQTL signals are still discoverable, with many GWAS signals colocalizing with these e/sQTL.

The paper develops DEEP, an ARG-free method to detect Denisovan-mediated superarchaic introgression, finding 0.4-0.6% of genomic windows with evidence of such ancestry in Oceanians, Tibetans, and Han Chinese.

This paper evaluates optimal reference panels for ancient DNA imputation using coalescent theory, simulations, and a real dataset, finding that including ancient samples improves imputation accuracy for rare variants.

This study identifies 52 genetic risk loci for female genital tract polyps, highlighting shared susceptibility with endometriosis, fibroids, and endometrial cancer through genome-wide association and Mendelian randomisation.

MetaGLIMPSE improves low coverage sequencing imputation by combining multiple reference panels, outperforming single-panel methods for modern and ancient DNA samples across various coverage and allele frequency ranges.

This paper benchmarks three statistical phasing methods using synthetic diploids, finding consistent error patterns across methods and populations.

The paper infers germline CpG methylation signatures in the human population using polymorphism data and a new method, achieving high concordance with WGBS data while capturing previously missed CpG sites.

The paper estimates heritability for height and BMI using whole-genome sequence data and finds that rare variants contribute significantly to the missing heritability.

This paper identifies two novel genetic loci associated with ischemic stroke and finds sex and ancestry differences in their effects.