Sophie H. R. Storz

The paper develops EpiSignaLR, a resource for genome-wide episignature analysis using methylation-aware sequencing data, identifying DMRs and classifiers for three neurodevelopmental disorders.

This paper evaluates long-read sequencing with targeted assembly for accurately analyzing the opsin gene cluster, showing high concordance and improved detection of color vision deficiencies and carrier status.

This paper benchmarks 7 TR genotyping tools using Nanopore long-read data, finding that no single tool is best across all metrics, and that sequence-level accuracy is crucial for clinical and population studies.

This study evaluates factors affecting haplotype phasing accuracy in long-read sequencing, showing that T2T reference genomes and longer reads improve performance.

This paper introduces an integrated microfluidic workflow for Oxford Nanopore sequencing that reduces hands-on time and sample loss while enabling high-quality library preparation from small sample volumes.

This study evaluates whole-genome long-read sequencing for diagnosing Prader-Willi and Angelman syndromes, showing high accuracy in detecting genetic variants and methylation differences.

The paper identifies a common intronic SVA_E insertion in ASPA as the most frequent pathogenic variant in Canavan disease using long-read sequencing.

The paper uses long-read sequencing on 100 samples from the 1000 Genomes Project to identify structural variants and improve understanding of human genetic variation.