Trial reportJournal of human genetics2018
Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals.
Trial report in Journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
What it found
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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.
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.
Who cites it
33 citing papers in PubMed, 44 citations in OpenAlex.
- Gallbladder cancer with dual genetic variants of PMS2 and BRCA2: a case report.Clinical journal of gastroenterology · 2026Article
- Pathogenic variation distribution of ACMG 3.2 list genes in 11 ethnic groups in southwest China.BMC genomics · 2026Article
- Population-scale genomic screening reveals high frequency of actionable secondary findings in Chinese newborns.NPJ genomic medicine · 2026Article
- Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.International journal of molecular sciences · 2025Article
- Analysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFR.Nature communications · 2024Article
- Case series of Li-Fraumeni syndrome: carcinogenic mechanisms in breast cancer with TP53 pathogenic variant carriers.Breast cancer (Tokyo, Japan) · 2024Article
- Genomic alterations in two patients with esophageal carcinosarcoma identified by whole genome sequencing: a case report.Surgical case reports · 2024Article
- Assessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes.NPJ genomic medicine · 2024Article
- Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study.Human genetics · 2023Article
- Clinically actionable secondary findings in 130 triads from sub-Saharan African families with non-syndromic orofacial clefts.Molecular genetics & genomic medicine · 2023Article
- Comparison of the loci associated with HbA1c and blood glucose levels identified by a genome-wide association study in the Japanese population.Diabetology international · 2023Article
- Assessment of pathogenic variation in gynecologic cancer genes in a national cohort.Scientific reports · 2023Article
- Landscape of germlineFrontiers in oncology · 2023Article
- Landscape of Secondary Findings in Chinese Population: A Practice of ACMG SF v3.0 List.Journal of personalized medicine · 2022Article
- Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.Clinical and translational medicine · 2022Article
- Lessons Learned in Practice with Li-Fraumeni Syndrome: LFS-Related Breast Cancer Treatment Strategy and Establishment of a Surveillance System.Juntendo Iji zasshi = Juntendo medical journal · 2022Article
- The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project.Journal of human genetics · 2022Article
- Medical guidelines for Li-Fraumeni syndrome 2019, version 1.1.International journal of clinical oncology · 2021Article
- Genetic Differences between Physical Injury Patients With and Without Post-traumatic Syndrome: Focus on Secondary Findings and Potential Variants Revealed by Whole Exome Sequencing.Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology · 2021Article
- Interpretation of Incidental Genetic Findings Localizing to Genes Associated With Cardiac Channelopathies and Cardiomyopathies.Circulation. Genomic and precision medicine · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
31 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Clarifying allele frequencies of disease-related genetic variants in a population is important in genomic medicine; however, such data is not yet available for the Japanese population. To estimate frequencies of actionable pathogenic variants in the Japanese population, we examined the reported pathological variants in genes recommended by the American College of Medical Genetics and Genomics (ACMG) in our reference panel of genomic variations, 2KJPN, which was created by whole-genome sequencing of 2049 individuals of the resident cohort of the Tohoku Medical Megabank Project. We searched for pathogenic variants in 2KJPN for 57 autosomal ACMG-recommended genes responsible for 26 diseases and then examined their frequencies. By referring to public databases of pathogenic variations, we identified 143 reported pathogenic variants in 2KJPN for the 57 ACMG recommended genes based on a classification system. At the individual level, 21% of the individuals were found to have at least one reported pathogenic allele. We then conducted a literature survey to review the variants and to check for evidence of pathogenicity. Our results suggest that a substantial number of people have reported pathogenic alleles for the ACMG genes, and reviewing variants is indispensable for constructing the information infrastructure of genomic medicine for the Japanese population.
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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.