ArticleJournal of human genetics2016
Human genetic variation database, a reference database of genetic variations in the Japanese population.
Article in Journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 171 papers, 2 of them syntheses that pooled it.
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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.
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Who cites it
171 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Pooled it
- Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.Nature genetics · 2018Pooled it
- Clinical and genetic backgrounds of hypertrophic cardiomyopathy with mid-ventricular obstruction.Journal of human genetics · 2018Trial
- Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals.Journal of human genetics · 2018Trial
- Primary Cerebral Pleomorphic-Myxoid Sarcoma With Many Hyaline Globules.Neuropathology : official journal of the Japanese Society of Neuropathology · 2026Article
- National genomic projects in Asia and Africa: a review.Human genomics · 2026Review
- Identification of tubulin gene variants in patients with dandy-walker malformation: expanding the spectrum of tubulinopathies.Molecular cytogenetics · 2026Article
- Homozygous SGCB splice-site variant causes isolated dilated cardiomyopathy through sarcoglycan complex destabilization in East Asians.The Journal of clinical investigation · 2026Article
- Autosomal dominant pigmented paravenous retinochoroidal atrophy associated with pathogenic variant in HK1 gene.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2026Article
- Whole-genome sequencing of 3135 individuals representing the genetic diversity of the Japanese population.Journal of human genetics · 2026Article
- Monogenic disorders of immunity: Common variants are not so rare.Cell genomics · 2026Review
- A SNP-based capture and clustering workflow to assess donor-derived cell-free DNA in transplantation.PloS one · 2026Article
- Article
- B-cell immunodeficiency associated with polynucleotide kinase 3'-phosphatase (PNKP) deficiency.The journal of allergy and clinical immunology. Global · 2025Article
- A scoping review of human genetic resources management policies and databases in high- and middle-low-income countries.BMC medical ethics · 2025Article
- Difference in Clinical Phenotype, Mutation Position, and Structural Change of RNF213 Rare Variants Between Pediatric and Adult Japanese Patients with Moyamoya Disease.Translational stroke research · 2024Article
- Evaluation of whole genome sequencing utility in identifying driver alterations in cancer genome.Scientific reports · 2024Article
- Whole-exome sequencing reveals the genetic causes and modifiers of moyamoya syndrome.Scientific reports · 2024Article
- Genomic landscape of comprehensive genomic profiling in patients with malignant solid tumors in Japan.International journal of clinical oncology · 2024Article
- Loss-of-function polymorphisms in NQO1 are not associated with the development of subacute myelo-optico-neuropathy.Molecular genetics & genomic medicine · 2024Article
111 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
31 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Whole-genome and -exome resequencing using next-generation sequencers is a powerful approach for identifying genomic variations that are associated with diseases. However, systematic strategies for prioritizing causative variants from many candidates to explain the disease phenotype are still far from being established, because the population-specific frequency spectrum of genetic variation has not been characterized. Here, we have collected exomic genetic variation from 1208 Japanese individuals through a collaborative effort, and aggregated the data into a prevailing catalog. In total, we identified 156 622 previously unreported variants. The allele frequencies for the majority (88.8%) were lower than 0.5% in allele frequency and predicted to be functionally deleterious. In addition, we have constructed a Japanese-specific major allele reference genome by which the number of unique mapping of the short reads in our data has increased 0.045% on average. Our results illustrate the importance of constructing an ethnicity-specific reference genome for identifying rare variants. All the collected data were centralized to a newly developed database to serve as useful resources for exploring pathogenic variations. Public access to the database is available at http://www.genome.med.kyoto-u.ac.jp/SnpDB/.
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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.