Evidence map›Paper›PMID 40370700›Full record

ReviewFrontiers in genetics2025

Leveraging long-read sequencing technologies for pharmacogenomic testing: applications, analytical strategies, challenges, and future perspectives.

Alireza Tafazoli, Mahboobeh Hemmati, Mahboobeh Rafigh, Maliheh Alimardani, Faeze Khaghani, Michał Korostyński, Jason H Karnes

Abstract readReview
In one paragraph

Review in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

9 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Review
  6. Article
  7. Review
  8. Review
  9. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Alireza TafazoliDepartment of Pharmacology and Toxicology, University of Toronto, Toronto, ON, Canada.
Mahboobeh HemmatiDepartment of Medical Genetics and Molecular Medicine, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Mahboobeh RafighMedical Genetics Research Center, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Maliheh AlimardaniDepartment of Medical Genetics and Molecular Medicine, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Faeze KhaghaniDepartment of Pharmaceutical Biotechnology, School of Pharmacy, Guilan University of Medical Sciences, Rasht, Iran.
Michał KorostyńskiLaboratory of Pharmacogenomics, Department of Molecular Neuropharmacology, Maj Institute of Pharmacology Polish Academy of Sciences, Kraków, Poland.
Jason H KarnesDepartment of Pharmacy Practice and Science, University of Arizona R. Ken Coit College of Pharmacy, Tucson, AZ, United States.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Long-read sequencing (LRS) was introduced as the third generation of next-generation sequencing technologies with a high accuracy rate in genomic variant identification for some of its platforms. Due to the structural complexity of many pharmacogenes, the presence of rare variants, and the limitations of genotyping and short-read sequencing approaches in detecting pharmacovariants, LRS methods are likely to become increasingly utilized in the near future. In this review, we aim to provide a comprehensive discussion of current and future applications of long-read genotyping methods by introducing the opportunities and advantages as well as the challenges and disadvantages of state-of-the-art LRS platforms for the implementation of pharmacogenomic tests in clinical and research settings. New approaches to data processing, as well as the challenges and pitfalls of performing such tests in daily practice, will be explored in detail. We provide references to resources for those who are interested or intend to employ LRS in pharmacogenomics screening, both in clinical and research settings.

Indexed as

applications and challengesclinical pharmacogenomicslong-read sequencingrare pharmacovariantsthird-generation sequencing

Identifiers

PMID40370700
PMCPMC12075302

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.