Thomas E Ludwig

A simple demonstration of a privacy-preserving de-centralised genotype imputation workflow

The paper demonstrates a privacy-preserving decentralized genotype imputation workflow using a federated approach, showing it can protect sensitive data while enabling imputation on plain-text files.

Enhancing the annotation of small ORF-altering variants using MORFEE: introducing MORFEEdb, a comprehensive catalog of SNVs affecting upstream ORFs in human 5'UTRs

The paper introduces MORFEE, a tool to identify SNVs altering small ORFs in human transcripts, and presents MORFEEdb, a catalog of such variants, showing over 45% of UTR-SNVs can affect upORFs or dORFs.

SURFBAT: a surrogate family-based association test building on large imputation reference panels

SURFBAT approximates transmission-disequilibrium tests using imputed haplotypes to detect genotype-phenotype associations while being robust to population stratification.

Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score

RAVA-FIRST improves rare variant association testing in whole-genome data by using functionally-informed testing units and filtering, identifying a novel intergenic region linked to venous thromboembolism.

Genetic population structure across Brittany and the downstream Loire basin provides new insights on the demographic history of Western Europe

The paper analyzes genetic structure in Brittany and the Loire basin to understand Western Europe's demographic history, finding increased population differentiation linked to steppe and Neolithic ancestry.

Integrated Clinical and Omics Approach to Rare Diseases: Novel Genes and Oligogenic Inheritance in Holoprosencephaly

This study identifies novel HPE genes and oligogenic inheritance patterns in holoprosencephaly by integrating clinical data with exome sequencing and gene prioritization.