Tomi Pastinen
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Explore the profile of Tomi Pastinen including associated specialties, affiliations and a list of published articles.
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202
Citations
10847
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Recent Articles
1.
Chen X, Baker D, Dolzhenko E, Devaney J, Noya J, Berlyoung A, et al.
Nat Commun
. 2025 Mar;
16(1):2340.
PMID: 40057485
Variant calling is hindered in segmental duplications by sequence homology. We developed Paraphase, a HiFi-based informatics method that resolves highly similar genes by phasing all haplotypes of paralogous genes together....
2.
Berrios C, Basey T, Bradley-Ewing A, Daniels-Young S, Lewis D, Feldman K, et al.
Clin Epigenetics
. 2025 Feb;
17(1):33.
PMID: 39987106
Background: Social epigenomics research investigates links between social experiences and epigenetic modifications, which may ultimately impact health. Such research holds promise for precision medicine and addressing health disparities based on...
3.
Wojcik M, Wojcik M, Clark R, Clark R, Elias A, Elias A, et al.
Res Sq
. 2025 Feb;
PMID: 39975911
Incontinentia pigmenti (IP) is caused by loss-of-function variants in , with molecular genetic diagnosis complicated by a pseudogene. We describe seven individuals from three families with IP but negative clinical...
4.
Dishuck P, Munson K, Lewis A, Dougherty M, Underwood J, Harvey W, et al.
bioRxiv
. 2025 Feb;
PMID: 39975192
The (nuclear pore interacting protein) gene family has expanded to high copy number in humans and African apes where it has been subject to an excess of amino acid replacement...
5.
Means J, Martinez-Bengochea A, Louiselle D, Nemechek J, Perry J, Farrow E, et al.
Nature
. 2025 Jan;
638(8049):237-243.
PMID: 39843740
Personalized antisense oligonucleotides (ASOs) have achieved positive results in the treatment of rare genetic disease. As clinical sequencing technologies continue to advance, the ability to identify patients with rare disease...
6.
Lansdon L, Yoo B, Keskus A, Pushel I, Bi C, Ahmad T, et al.
medRxiv
. 2025 Jan;
PMID: 39802758
Gene fusions are common primary drivers of pediatric leukemias and are the result of underlying structural variant (SVs). Current clinical workflows to detect such alterations rely on a multimodal approach,...
7.
Jeong H, Dishuck P, Yoo D, Harvey W, Munson K, Lewis A, et al.
Nat Genet
. 2025 Jan;
57(2):390-401.
PMID: 39779957
Segmental duplications (SDs) contribute significantly to human disease, evolution and diversity but have been difficult to resolve at the sequence level. We present a population genetics survey of SDs by...
8.
Holt J, Harting J, Chen X, Baker D, Saunders C, Kronenberg Z, et al.
bioRxiv
. 2024 Dec;
PMID: 39713404
Pharmacogenomics is central to precision medicine, informing medication safety and efficacy. Pharmacogenomic diplotyping of complex genes requires full-length DNA sequences and detection of structural rearrangements. We introduce StarPhase, a tool...
9.
Smail C, Ge B, Keever-Keigher M, Schwendinger-Schreck C, Cheung W, Johnston J, et al.
Nat Commun
. 2024 Sep;
15(1):8196.
PMID: 39294130
Emerging evidence implicates common genetic variation - aggregated into polygenic scores (PGS) - in the onset and phenotypic presentation of rare diseases. Here, we comprehensively map individual polygenic liability for...
10.
Schmitt A, Sikkink K, Ahmed A, Melnyk S, Reid D, Van Meter L, et al.
Cancers (Basel)
. 2024 Sep;
16(17).
PMID: 39272793
Hi-C sequencing is a DNA-based next-generation sequencing method that preserves the 3D genome conformation and has shown promise in detecting genomic rearrangements in translational research studies. To evaluate Hi-C as...