Markus Maria Nöthen

Bone2Gene: Next-generation Phenotyping of Rare Bone Diseases

Bone2Gene uses deep learning to classify rare bone diseases from hand radiographs, achieving high accuracy for distinct disorders but lower for overlapping ones.

(Epi-)Genomic Data in the German TwinLife Study: TwinSNPs and TECS Cohort Profiles

The paper describes the curation and initial analysis of molecular genetic and epigenetic data from the TwinLife study, highlighting associations between polygenic scores and attrition, and stability of epigenetic clocks in saliva.

Co-expression-based models improve eQTL predictions and highlightnovel transcriptome-wide genes associated with schizophrenia

The paper introduces co-expression-based models to improve eQTL predictions and identifies novel schizophrenia-associated genes using brain RNA-seq data.

Genome-wide association study of major anxiety disorders in 122,341 European-ancestry cases identifies 58 loci and highlights GABAergic signaling

This paper identifies 58 genome-wide significant loci for major anxiety disorders using a large meta-analysis and highlights GABAergic signaling as a potential mechanism.

Generating Synthetic Task-based Brain Fingerprints for Population Neuroscience Using Deep Learning

The paper introduces DeepTaskGen, a deep learning method that generates synthetic task-based contrast maps from resting-state fMRI data, outperforming benchmarks and enabling biomarker development for cognitive tasks.

Genome-wide Association Study of Long COVID

This study performs a genome-wide association study for Long COVID, identifying a significant association with the FOXP4 locus and highlighting the role of pulmonary dysfunction and COVID-19 severity.

Genetic and Environmental Contributions to Epigenetic Aging Across Adolescence and Young Adulthood

This study examines genetic and environmental influences on epigenetic aging variance across adolescence and young adulthood using twin data and four aging estimators.

GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets

This study performs a GWAS meta-analysis of psoriasis, identifying 109 susceptibility loci, including 45 new ones, and highlights potential therapeutic targets and disease mechanisms.

A multi-omics and cell type-specific characterization of the ventral striatum in human cocaine use disorder

This study characterizes molecular changes in the ventral striatum of individuals with cocaine use disorder using multi-omics and single-cell approaches, identifying perturbations in metabolic pathways and cell-type-specific alterations.

GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors

GestaltMatcher improves diagnosis of ultra-rare genetic disorders by matching facial phenotypes to molecular diagnoses using a deep learning model trained on a large dataset of patient photographs.

Breast and prostate cancer risk: the interplay of polygenic risk, high-impact monogenic variants, and family history

This study assesses how polygenic risk scores, high-impact monogenic variants, and family history influence breast and prostate cancer risk using UK Biobank data.

Interplay between the Genetics of Personality Traits, severe Psychiatric Disorders, and COVID-19 Host Genetics in the Susceptibility to SARS-CoV-2 Infection

The paper investigates genetic correlations between psychiatric disorders, personality traits, and SARS-CoV-2 susceptibility using GWAS data and individual-level polygenic risk scores.

Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.

A coronary artery disease GWAS of 181,522 cases among 1,165,690 participants yields 241 associations (54 new); an eight-predictor consensus nominates 185 candidate causal genes, 94 with ≥3 predictors.

Genetic factors influencing a neurobiological substrate for psychiatric disorders

The paper investigates genetic factors influencing a neurobiological substrate for psychiatric disorders and finds that a common genetic variant is associated with the substrate but not directly with disease risk.

"The Heidelberg Five" Personality Dimensions: Genome-wide Associations, Polygenic Risk for Neuroticism, and Psychopathology 20 Years after Assessment

The paper identifies genetic associations with five personality dimensions and links them to psychiatric symptoms over time.

Synaptic processes and immune-related pathways implicated in Tourette Syndrome

This study identifies gene sets associated with Tourette Syndrome using genome-wide data, highlighting synaptic and immune-related pathways.

LAMP-Seq: Population-Scale COVID-19 Diagnostics Using Combinatorial Barcoding

LAMP-Seq combines three-step isothermal RT-LAMP amplification with combinatorial barcoding to pool and sequence SARS-CoV-2 clinical samples en masse for scalable diagnostics.

A genome-wide genetic pleiotropy approach identified shared loci between multiple system atrophy and inflammatory bowel disease

This study identifies shared genetic loci between multiple system atrophy and inflammatory bowel disease using conjFDR, highlighting immune and gut-related molecular mechanisms.

PEDIA: Prioritization of Exome Data by Image Analysis

The paper introduces an AI-driven method that uses facial images to prioritize exome data, achieving 99% top-10 accuracy in identifying disease-causing genes.

Generative network models identify biological mechanisms of altered structural brain connectivity in schizophrenia

The paper uses generative network models to identify spatial and topological mechanisms underlying altered structural brain connectivity in schizophrenia and its relatives.

Genome Wide Association Scan identifies new variants associated with a cognitive predictor of dyslexia.

The paper conducts a GWAS to identify genetic variants associated with a cognitive predictor of dyslexia, finding significant associations with variants near MIR924HG and NKAIN3.

Cis-epistasis at the LPA locus and risk of coronary artery disease

The paper identifies cis-epistasis at the LPA locus involving two SNPs that interact to modulate coronary artery disease risk and related traits.

Polygenic scores for major depressive disorder and depressive symptoms predict response to lithium in patients with bipolar disorder

The paper shows that polygenic scores for depression traits predict lithium response in bipolar disorder patients, with lower genetic load linked to better treatment outcomes.

Genome-wide association study of suicide attempt in psychiatric disorders identifies association with major depression polygenic risk scores

This paper conducts a GWAS on suicide attempt across psychiatric disorders, identifying genetic loci and showing polygenic risk for major depression predicts suicide attempt in multiple disorders.

Analysis of shared heritability in common disorders of the brain

Genetic correlations across 25 brain disorders (215,683 cases) reveal broad psychiatric common-variant sharing, largely distinct neurological disorders, and migraine as the only significant cross-category link.

High genetic loading for schizophrenia predicts poor response to lithium in patients with bipolar disorder: A polygenic score and cross-trait genetic analysis

This study finds that a higher genetic risk for schizophrenia is linked to poorer lithium response in bipolar disorder patients, suggesting potential for personalized treatment strategies.

Genetic regulatory effects modified by immune activation contribute to autoimmune disease associations

The paper identifies response eQTLs that modify genetic regulation during immune activation and shows their enrichment in autoimmune disease GWAS signals.

Genotype-phenotype association mining in bipolar disorder: market research meets complex genetics

The paper applies association rule mining to GWAS data of bipolar disorder to identify novel genotype-phenotype relationships not detected by traditional GWAS methods.