Tomi Pastinen

Children's Mercy Hospital — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

69h-index22.5kcitations400works8.42yr avg
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Research Topics

Epigenetics and DNA Methylation(108), Genetic Associations and Epidemiology(53), RNA modifications and cancer(43), Genomics and Rare Diseases(43), Acute Lymphoblastic Leukemia research(32)

Publications382 total

Functional assessment of a convergent gene network underlying allergic diseases and IgE
Journal of Allergy and Clinical Immunology·2026Open Access
A comprehensive bulk and single-cell transcriptional atlas of pediatric leukemias
2025Open Access
Accurate somatic small variant discovery for multiple sequencing technologies with DeepSomatic
Nature Biotechnology·2025· 6 cited
Long-read sequencing reveals telomere inheritance patterns from human trios
2025Open Access
Altered sperm DNA methylation in overweight men associates transposable element regulation to paternal origins of disease risk in children
2025Open Access
Structural variation, selection, and diversification of the NPIP gene family from the human pangenome
Cell Genomics·2025· 5 citedOpen Access
Long-read sequencing is required for precision diagnosis of incontinentia pigmenti
Human Genetics and Genomics Advances·2025Open Access
CpG methylation changes associated with hyperglycemia in type 1 diabetes occur at angiogenic glomerular and retinal gene loci
Scientific Reports·2025· 1 citedOpen Access
Abstract 7436: DeepSomatic: A SNV and small-indel somatic caller using deep neural networks
Cancer Research·2025
Abstract 2848: Severus: A tool for detecting and characterizing complex structural variants in cancer using long-read sequencing
Cancer Research·2025
Intronic <i>FGF14</i> GAA repeat expansions impact progression and survival in multiple system atrophy
Brain·2025· 4 citedOpen Access
Severus detects somatic structural variation and complex rearrangements in cancer genomes using long-read sequencing
Nature Biotechnology·2025· 17 citedOpen Access
STRkit: precise, read-level genotyping of short tandem repeats using long reads and single-nucleotide variation
2025Open Access
Evolving epigenomics of immune cells in type 1 diabetes at single nuclei resolution
2025Open Access
Expanded methylome and quantitative trait loci detection by long-read profiling of personal DNA
Genome Research·2025· 1 citedOpen Access
Genome-wide profiling of highly similar paralogous genes using HiFi sequencing
Nature Communications·2025· 4 citedOpen Access
Black community member perceptions and ethics recommendations on epigenomic research
Clinical Epigenetics·2025· 1 citedOpen Access
Structural variation, selection, and diversification of the <i>NPIP</i> gene family from the human pangenome
2025· 2 citedOpen Access
Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti
2025Open Access
Rapid and scalable personalized ASO screening in patient-derived organoids
Nature·2025· 35 citedOpen Access
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Frequent Co-authors

Bing Ge(18), Elin Grundberg(16), Tony Kwan(15), Nicole Soranzo(10), Guillaume Bourque(8), Stephan Busche(8), Warren Cheung(8), Thomas J. Hudson(7), Maxime Caron(6), Marie-Michelle Simon(6), Eef Harmsen(6), Kate Downes(5), Stephan Beck(5), Dirk S. Paul(5), Jacek Majewski(5), Daniel Sinnett(5), John Lambourne(4), Stephen Watt(4), David Bujold(4), Mattia Frontini(4)