Margaret Gibson

This study presents a comprehensive bulk and single-cell transcriptional dataset of 69 pediatric leukemia patients, demonstrating its utility in improving leukemia characterization and clinical testing.

DeepSomatic is a deep learning method for detecting somatic variants from short-read and long-read sequencing data, outperforming existing callers, especially for indels.

Severus detects and characterizes somatic structural variations in tumor genomes using long reads, outperforming existing methods in accuracy and revealing clinically relevant rearrangements.

This study shows that HiFi long-read sequencing can detect clinically relevant structural variants in pediatric leukemia, improving subtype classification.

The paper uses HiFi sequencing to identify hypermethylation outliers in a rare disease cohort, finding allele-specific loss of regulatory elements linked to disease.

This study investigates sex-dependent molecular and cellular changes in mouse lungs exposed to hyperoxia, identifying distinct progenitor and reparative responses in males and females.

The paper presents diagnostic analyses of 960 pediatric rare disease families using genomic sequencing and machine learning, finding higher diagnostic rates with long-read sequencing and highlighting challenges in variant interpretation.