Tomi Pastinen

23PUBLICATIONS
173CO-AUTHORS
Gene mappingImmunogenetics (incl. genetic immunology)Gene expression (incl. microarray and other genome-wide approaches)Medical infection agents (incl. prions)Epigenetics (incl. genome methylation and epigenomics)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (23)

|May 01, 2026
Long-Read HiFi Genome Sequencing Resolves Retrotransposon-Mediated Deletions in TANGO2 Deficiency Disorder.

|Feb 25, 2026
Evolving epigenomics of immune cells at single-nucleus resolution in children en route to type 1 diabetes.

Tomi Pastinen, Elin Grundberg, Todd Bradley

|Jan 15, 2026
Read-level genotyping of short tandem repeats using long reads and single-nucleotide variation with STRkit.

David R Lougheed, Tomi Pastinen, Guillaume Bourque

|Oct 16, 2025
Accurate somatic small variant discovery for multiple sequencing technologies with DeepSomatic.

Jimin Park, Daniel E Cook, Pi-Chuan Chang

|Apr 14, 2025
Novel Pathogenic Variants in POLR3K Cause POLR3-Related Leukodystrophy.

Stefanie Perrier, Julia Macintosh, Agata D Misiaszek

|Apr 08, 2025
Evolving epigenomics of immune cells in type 1 diabetes at single nuclei resolution.

Tomi Pastinen, Elin Grundberg, Todd Bradley

Pageof 4

Frequent Collaborators

8 joint publications

Isabelle Thiffault

6 joint publications

Emily G Farrow

6 joint publications

Warren Cheung

4 joint publications

Evan E Eichler