Anna Schuh

Multimodal cell-free DNA whole-genome analysis combined with TET-Assisted Pyridine Borane Sequencing is sensitive and reveals specific cancer signals

This paper develops a bioinformatics pipeline combining TAPS and whole-genome sequencing to detect ctDNA in cancer patients, achieving 85.2% sensitivity with 100% specificity.

Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma

This study evaluates the ability of long-read sequencing to detect somatic variants in a lymphoma patient, highlighting the need for specialized tools and the advantages of long reads for structural variants.

A statistical approach for tracking clonal dynamics in cancer using longitudinal next-generation sequencing data

This paper introduces a statistical method to track clonal dynamics in cancer using longitudinal sequencing data, showing improved model performance with temporal information.

A method for non-invasive prenatal diagnosis of monogenic autosomal recessive disorders

This paper validates a non-invasive prenatal test for detecting monogenic autosomal recessive disorders using cfDNA sequencing and probabilistic modeling, achieving high sensitivity and specificity in clinical samples.

Differential genomic and transcriptomic events associated with high-grade transformation of Chronic Lymphocytic Leukemia

The paper identifies genomic and transcriptomic changes in CLL transforming to RS, finding pathway mutations and non-coding mutations in PAX5 enhancers associated with transformation.