Cate Randall Paschal

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 Genomic Proximity Mapping (GPM) for detecting structural variants in constitutional disorders, showing high concordance and resolution compared to standard methods.

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

This study demonstrates rapid whole-genome sequencing and targeted analysis within three hours to assess genetic risk in a newborn, showing they are not affected or a carrier for a specific Mendelian condition.

The paper identifies somatic BRAF variants as a cause of PIK3CA-negative lymphatic malformations, expanding the genetic understanding of vascular malformations.

This paper introduces targeted long-read sequencing to identify complex structural variants and disease-causing mutations missed by conventional methods, improving diagnostic accuracy in genetic disorders.