Thomas Weber

Do 5' regions of human protein-coding genes contain the blueprints for alternative splicing?

The paper investigates whether 5' regions of human protein-coding genes contain blueprints for alternative splicing by comparing genes with multiple and single transcript isoforms.

Origins of de novo chromosome rearrangements unveiled by coupled imaging and genomics

The paper introduces MAGIC, a platform combining imaging and genomics to study de novo chromosome rearrangements, finding that dicentric chromosomes initiate CA events and TP53 deficiency increases CA rates.

The JEDI marker as a universal measure of planetary biodiversity

The paper introduces the JEDI marker as a universal biodiversity measure, demonstrating its applicability across ecological scales and providing an automated bioinformatic workflow for standardized analysis.

Critical assessment of missense variant effect predictors on disease-relevant variant data

The paper evaluates missense variant effect predictors using CAGI6 data, finding strong performance across settings and highlighting biases in some predictors.

MosaiCatcher v2: a single-cell structural variations detection and analysis reference framework based on Strand-seq

MosaiCatcher v2 provides a standardized workflow for single-cell structural variation detection using Strand-seq, enhancing reproducibility and portability in human genetics research.