Lara Heermans Winterkorn

This study characterizes the molecular differences in high-grade endometrial cancer across an ancestrally diverse cohort, identifying ancestry-associated mutations and immune microenvironment differences.

This paper introduces MRD-EDGE, a machine learning platform for ultrasensitive ctDNA detection in plasma WGS, showing improved sensitivity and broader applicability for MRD monitoring.

This study examines how mutagenesis and extrachromosomal DNA contribute to urothelial cancer evolution, revealing clonal APOBEC3 mutations and chemotherapy-induced mutational bursts within ecDNA.

This study applies low-cost whole genome sequencing to detect circulating tumor DNA at high sensitivity in plasma samples, achieving error rates as low as 10^-7 and enabling cancer monitoring without matched tumor sequencing.

The paper shows that condensin DC spreads from rex sites to form TADs on the X-chromosome in C. elegans, but not on autosomes unless rex sites are artificially added.

The paper presents a high coverage whole genome sequencing resource of 3,202 samples, including 602 trios, generated from the expanded 1000 Genomes Project.

The paper identifies ultra-rare inherited mutations that are younger and preferentially transmitted to autism probands, revealing novel candidate genes and functional networks.

The paper shows that DCC binding reduces active histone modifications at X chromosome gene regulatory elements, fine-tuning X transcription.

The paper introduces ExpansionHunter, a tool for detecting long repeat expansions from PCR-free WGS data, achieving high sensitivity and specificity in identifying pathogenic expansions.