Manfred Kayser
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View article: Genetic Insights of Image-Based Traits: Analysis Pipeline for AI-based Phenotyping, Combined-GWAS, and Federated Learning with Application to the Human Face
Genetic Insights of Image-Based Traits: Analysis Pipeline for AI-based Phenotyping, Combined-GWAS, and Federated Learning with Application to the Human Face Open
Image-derived phenotypes - traits extracted from biological images - capture rich morphological information and understanding their genetic basis is crucial for elucidating developmental mechanisms and linking genetic variation to complex …
View article: Recommendations for (Pharmaco)Genetic Sampling in Patients Following Allogeneic Hematopoietic Stem Cell Transplantation
Recommendations for (Pharmaco)Genetic Sampling in Patients Following Allogeneic Hematopoietic Stem Cell Transplantation Open
In patients receiving allogenic hematopoietic stem cell transplantation (aHSCT) complete chimerism is desired. However, this brings a challenge when non‐invasive assessment of recipient germline DNA is required for genetic testing. Here, w…
View article: UYSD: a novel data repository accessible via public website for worldwide population frequencies of Y-SNP haplogroups
UYSD: a novel data repository accessible via public website for worldwide population frequencies of Y-SNP haplogroups Open
For decades, there has been scientific interest in the variation and geographic distribution of paternal lineages associated with the human Y chromosome. However, the relevant data have been dispersed across numerous publications, making i…
View article: A novel mathematical framework for pedigree-based calculation of Y-STR match probabilities
A novel mathematical framework for pedigree-based calculation of Y-STR match probabilities Open
Y-chromosomal short tandem repeat (Y-STR) markers are routinely used in forensic casework to identify male donors of biological traces left at crime scenes, particularly in sexual assault cases. However, the evidential value of a match bet…
View article: Comparative performance evaluation of bisulfite- and enzyme-based DNA conversion methods
Comparative performance evaluation of bisulfite- and enzyme-based DNA conversion methods Open
Background Bisulfite conversion (BC) has been the gold standard in DNA methylation profiling for decades. During this chemical process, non-methylated cytosines are converted into uracils, while methylated cytosines remain intact. Despite …
View article: Unprecedented male relative differentiation with Y-SNVs from whole genome sequencing
Unprecedented male relative differentiation with Y-SNVs from whole genome sequencing Open
The principal limitation of forensic Y-STR analysis, which identifies a male lineage rather than an individual man, is being addressed by the discovery and application of rapidly mutating Y-STRs (RM Y-STRs). Due to their higher mutation ra…
View article: Investigating Single-Molecule Molecular Inversion Probes for Medium-Scale Targeted DNA Methylation Analysis
Investigating Single-Molecule Molecular Inversion Probes for Medium-Scale Targeted DNA Methylation Analysis Open
Background: Epigenetic biomarkers, particularly CpG methylation, are increasingly employed in clinical and forensic settings. However, we still lack a cost-effective, sensitive, medium-scale method for the analysis of hundreds to thousands…
View article: A large-scale genome-wide association meta-analysis for nevus count provides direct insights into the genetics of melanoma
A large-scale genome-wide association meta-analysis for nevus count provides direct insights into the genetics of melanoma Open
A greater understanding of the biology of nevi will provide insights into the etiology of melanoma. Our large-scale meta-analysis of 14 nevus genome-wide association study (GWAS) included 85,967 individuals of European ancestry. We identif…
View article: qBiCo: a method to assess global DNA conversion performance in epigenetics via single-copy genes and repetitive elements
qBiCo: a method to assess global DNA conversion performance in epigenetics via single-copy genes and repetitive elements Open
Background Human DNA methylation profiling offers great promises in various biomedical applications, including ageing, cancer and even forensics. So far, most DNA methylation techniques are based on a chemical process called sodium bisulfi…
View article: Daily rhythm in <scp>DNA</scp> methylation and the effect of total sleep deprivation
Daily rhythm in <span>DNA</span> methylation and the effect of total sleep deprivation Open
Summary Numerous hormones and genes exhibit diurnal 24‐hr rhythms that can also be affected by sleep deprivation. Here we studied diurnal rhythms in DNA methylation under a 24‐hr sleep/wake cycle and a subsequent 29 hr of continual wakeful…
View article: Deep learning predicted perceived age is a reliable approach for analysis of facial ageing: A proof of principle study
Deep learning predicted perceived age is a reliable approach for analysis of facial ageing: A proof of principle study Open
Background Perceived age (PA) has been associated with mortality, genetic variants linked to ageing and several age‐related morbidities. However, estimating PA in large datasets is laborious and costly to generate, limiting its practical a…
View article: qBiCo: A method to assess global DNA conversion performance in epigenetics via single-copy genes and repetitive elements
qBiCo: A method to assess global DNA conversion performance in epigenetics via single-copy genes and repetitive elements Open
Human DNA methylation profiling offers great promises in various biomedical applications, including ageing, cancer and even forensics. So far, most DNA methylation techniques are based on a chemical process called sodium bisulfite conversi…
View article: Considerations on expanding criminal offender DNA databases with Y-STR profiles
Considerations on expanding criminal offender DNA databases with Y-STR profiles Open
Although national criminal offender DNA databases (NCODDs) including autosomal short tandem repeats (STRs) have been a successful tool to identify criminals for decades in many countries, yet there are many criminal cases they cannot solve…
View article: Adaptive predictor‐set linear model: An imputation‐free method for linear regression prediction on data sets with missing values
Adaptive predictor‐set linear model: An imputation‐free method for linear regression prediction on data sets with missing values Open
Linear regression (LR) is vastly used in data analysis for continuous outcomes in biomedicine and epidemiology. Despite its popularity, LR is incompatible with missing data, which frequently occur in health sciences. For parameter estimati…
View article: Deconvoluting multi-person biological mixtures and accurate characterization and identification of separated contributors using non-targeted single-cell DNA sequencing
Deconvoluting multi-person biological mixtures and accurate characterization and identification of separated contributors using non-targeted single-cell DNA sequencing Open
The genetic characterization and identification of individuals who contributed to biological mixtures are complex and mostly unresolved tasks. These tasks are relevant in various fields, particularly in forensic investigations, which frequ…
View article: Adaptive predictor-set linear model: an imputation-free method for linear regression prediction on datasets with missing values
Adaptive predictor-set linear model: an imputation-free method for linear regression prediction on datasets with missing values Open
Summary Linear regression (LR) is vastly used in data analysis for continuous outcomes in biomedicine and epidemiology. Despite its popularity, LR is incompatible with missing data, which frequently occur in health sciences. For parameter …
View article: Male Pedigree Toolbox: A Versatile Software for Y-STR Data Analyses
Male Pedigree Toolbox: A Versatile Software for Y-STR Data Analyses Open
Y-chromosomal short tandem repeats (Y-STRs) are widely used in forensic, genealogical, and population genetics. With the recent increase in the number of rapidly mutating (RM) Y-STRs, an unprecedented level of male differentiation can be a…
View article: Commentary on: Elkins <scp>KM</scp>, Garloff <scp>AT</scp>, Zeller <scp>CB</scp>. Additional predictions for forensic <scp>DNA</scp> phenotyping of externally visible characteristics using the ForenSeq and Imagen kits. <i>J Forensic Sci</i>. 2023;68(2):608–13. https://doi.org/10.1111/1556‐4029.15215
Commentary on: Elkins <span>KM</span>, Garloff <span>AT</span>, Zeller <span>CB</span>. Additional predictions for forensic <span>DNA</span> phenotyping of externally visible characteristics using the ForenSeq and Imagen kits. <i>J Forensic Sci</i>. 2023;68(2):608–13. https://doi.org/10.1111/1556‐4029.15215 Open
In their article published by the Journal [1], Elkins et al. state that 15 SNPs included in the commercial ForenSeq and Imagen kits have "prediction capabilities" for 15 externally visible characteristics (EVCs) not targeted by these kits,…
View article: Predicting skin cancer risk from facial images with an explainable artificial intelligence (XAI) based approach: a proof-of-concept study
Predicting skin cancer risk from facial images with an explainable artificial intelligence (XAI) based approach: a proof-of-concept study Open
Background Efficient identification of individuals at high risk of skin cancer is crucial for implementing personalized screening strategies and subsequent care. While Artificial Intelligence holds promising potential for predictive analys…
View article: Development of an epigenetic age predictor for costal cartilage with a simultaneous somatic tissue differentiation system
Development of an epigenetic age predictor for costal cartilage with a simultaneous somatic tissue differentiation system Open
Age prediction from DNA has been a topic of interest in recent years due to the promising results obtained when using epigenetic markers. Since DNA methylation gradually changes across the individual's lifetime, prediction models have been…
View article: Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci
Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci Open
Human ear morphology, a complex anatomical structure represented by a multidimensional set of correlated and heritable phenotypes, has a poorly understood genetic architecture. In this study, we quantitatively assessed 136 ear morphology t…
View article: Machine learning estimation of human body time using metabolomic profiling
Machine learning estimation of human body time using metabolomic profiling Open
Circadian rhythms influence physiology, metabolism, and molecular processes in the human body. Estimation of individual body time (circadian phase) is therefore highly relevant for individual optimization of behavior (sleep, meals, sports)…
View article: Recent advances in Forensic DNA Phenotyping of appearance, ancestry and age
Recent advances in Forensic DNA Phenotyping of appearance, ancestry and age Open
Forensic DNA Phenotyping (FDP) comprises the prediction of a person's externally visible characteristics regarding appearance, biogeographic ancestry and age from DNA of crime scene samples, to provide investigative leads to help find unkn…