Author
Children’s Mercy Research InstituteORCID 0000-0003-1444-7551Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Cristian Groza, Carl Schwendinger-Schreck, Warren Cheung…·Tomi Pastinen
The paper uses pangenome graphs to improve detection of rare structural variants in a rare disease cohort, identifying novel diagnostic variants.
Warren Cheung, Adam F. Johnson, William J. Rowell…·Tomi Pastinen
The paper uses HiFi sequencing to identify hypermethylation outliers in a rare disease cohort, finding allele-specific loss of regulatory elements linked to disease.
Ana S.A. Cohen, Emily Farrow, Ahmed T. Abdelmoity…·Tomi Pastinen
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.