bioRxiv Science⌕ Search

Biology subjects

Guler, M. N.

Publications and source records attributed to Guler, M. N..

3 recordsLinked to original sources

Covariate-aware genomic prediction of blood metabolite profiles using multi-task neural networks

Predictive models of quantitative traits can combine genetic and covariate information, but overall predictive performance alone does not reveal whether differences between models arise from covariate, genetic or joint covariate-genetic effects. Circulating metabolites provide a high-dimensional set of clinically relevant quantitative traits in which these effects can be examined systematically. Although their genetic determinants are well characterised through genome-wide association studies, marginal associations do not establish how accurately metabolomic profiles can be predicted or whether nonlinear models can improve prediction by capturing complex and potentially interactive structure. Here, we developed a multi-task neural network (NN) for simultaneously predicting metabolomic profiles with a three-stage architecture separating covariate, genetic and joint contributions. In comparative analyses, the multi-task NN demonstrated the strongest mean performance across metabolites (R2=0.219), followed by the single-task NN (R2=0.211), elastic net (R2=0.207), and an activation-free multi-task model (R2=0.191). Decomposition analyses indicated that gains were mainly driven by nonlinear covariate modelling, consistent with improved prediction after incorporating nonlinear age effects into a linear model. Together, these analyses provide a framework for identifying sources of predictive differences between different models, which may be applicable to other collections of quantitative traits.

genomics↗

DeepKin: Predicting relatedness from low-coverage genomes and paleogenomes with convolutional neural networks

DeepKin is a novel tool designed to predict relatedness from genomic data using convolutional neural networks (CNNs). Traditional methods for estimating relatedness often struggle when genomic data is limited, as with paleogenomes and degraded forensic samples. DeepKin addresses this challenge by leveraging two CNN models trained on simulated genomic data to classify relatedness up to the third-degree and to identify parent-offspring and sibling pairs. Our benchmarking shows DeepKin performs comparably or better than the widely used tool READv2. We validated DeepKin on empirical paleogenomes from two paleological sites, demonstrating its robustness and adaptability across different genetic backgrounds, with accuracy >90% above 10K shared SNPs. By capturing information across genomic segments, DeepKin offers a new methodological path for relatedness estimation in settings with highly degraded samples, with applications in ancient DNA, as well as forensic and conservation genetics.

bioinformatics↗

Female lineages and changing kinship patterns in Neolithic Catalhöyük

Arguments have long suggested that the advent of early farming in the Near East and Anatolia was linked to a Mother Goddess cult. However, evidence for a dominant female role in these societies has been scarce. We studied social organisation, mobility patterns and gendered practices in Neolithic Southwest Asia using 131 paleogenomes from Catalhoyuk East Mound (7100-5950 BCE), a major settlement in Central Anatolia with an uninterrupted occupation and an apparent egalitarian structure. In contrast to widespread genetic evidence for patrilocality in Neolithic Europe, the Catalhoyuk individuals revealed no indication of patrilocal mobility. Analysing genetic kin ties among individuals buried in the same house (co-burials) across 35 Catalhoyuk buildings, we identified close ties concentrated within buildings and among neighbours in Catalhoyuks Early period, akin to those in the preceding Pre-Pottery Neolithic in Southwest Asia. This pattern weakened over time: by the late 7th millennium BCE, subadults buried in the same building were rarely closely genetically related, despite sharing similar diets. Still, throughout the sites occupation, genetic connections within Catalhoyuk buildings were much more frequently connected via the maternal than the paternal line. We also identified differential funerary treatment of female subadults compared to those of males, with a higher frequency of grave goods associated with females. Our results reveal how kinship practices changed while key female roles persisted over one thousand years in a large Neolithic community in western Eurasia.

genomics↗