Journal of Human Genetics

Welcome to the Journal of Human Genetics

An international journal publishing articles on human genetics, including medical genetics and human genome analysis

Current issue

Artificial intelligence in medical genomics

Yoichiro Kamatani
Tadashi Kaname
Editorial27 Aug 2024
Prediction of protein structure and AI

Shiho Ohno
Noriyoshi Manabe
Yoshiki Yamaguchi
Review Article04 Jan 2024
Genotype imputation methods for whole and complex genomic regions utilizing deep learning technology

Tatsuhiko Naito
Yukinori Okada
Review ArticleOpen Access15 Jan 2024
Advances in AI and machine learning for predictive medicine

Alok Sharma
Artem Lysenko
Tatsuhiko Tsunoda
Review ArticleOpen Access29 Feb 2024
Fundamentals for predicting transcriptional regulations from DNA sequence patterns

Masaru Koido
Kohei Tomizuka
Chikashi Terao
Review ArticleOpen Access10 May 2024
Genetic association mapping leveraging Gaussian processes

Natsuhiko Kumasaka
Review ArticleOpen Access04 Jun 2024

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Development of a method for the imputation of the multi-allelic serotonin-transporter-linked polymorphic region (5-HTTLPR) in the Japanese population
Check out the latest issue!

October 2024: Volume 69, Issue 10
Artificial intelligence in medical genomics

Special Issue Editors: Yoichiro Kamatani and Tadashi Kaname
Explore Special Feature Review Collections

Find previous Special Features collections of review articles here. Topics include: Future Perspective of Human Genomics Analysis, Long-read Sequencing in Human Genetics, Advances in Inborn Errors of Metabolism, Genome Editing, and more

Browse articles

Development of a method for the imputation of the multi-allelic serotonin-transporter-linked polymorphic region (5-HTTLPR) in the Japanese population

Yutaro Yanagida
Izumi Naka
Kazuya Iwamoto
Article25 Sept 2024
Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation

Yukiko Kuroda
Tamaki Ikegawa
Kenji Kurosawa
Brief Communication20 Sept 2024
Nationwide survey of the secondary findings in cancer genomic profiling: survey including liquid biopsy

Saki Shimada
Takahiro Yamada
Shinji Kosugi
Article17 Sept 2024
Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286 T > C identified as a hotspot mutation in Chinese patients with a stable natural history

Huafang Jiang
Chaolong Xu
Fang Fang
Article03 Sept 2024
Investigating common mutations in ATP7B gene and the prevalence of Wilson’s disease in the Thai population using population-based genome-wide datasets

Paravee Own-eium
Donniphat Dejsuphong
Jakris Eu-ahsunthornwattana
Article28 Aug 2024
Artificial intelligence in medical genomics

Yoichiro Kamatani
Tadashi Kaname
Editorial27 Aug 2024
Healthy lifestyle practice correlates with decreased obesity prevalence in individuals with high polygenic risk: TMM CommCohort study

Yoichi Sutoh
Tsuyoshi Hachiya
Atsushi Shimizu
ArticleOpen Access22 Aug 2024
Hydrops fetalis due to loss of function of hNav1.4 channel via compound heterozygous variants

Tomoya Kubota
Miho Nagata
Masanori P. Takahashi
ArticleOpen Access21 Aug 2024
Contribution of rare variants to heritability of a disease is much greater than conventionally estimated: modification of allele distribution model

Yoshiro Nagao
Article20 Aug 2024

Welcome to the Journal of Human Genetics

Current issue

Artificial intelligence in medical genomics

Prediction of protein structure and AI

Genotype imputation methods for whole and complex genomic regions utilizing deep learning technology

Advances in AI and machine learning for predictive medicine

Fundamentals for predicting transcriptional regulations from DNA sequence patterns

Genetic association mapping leveraging Gaussian processes

Announcements

Free Access Articles

Check out the latest issue!

Artificial intelligence in medical genomics

Explore Special Feature Review Collections

Browse articles

Development of a method for the imputation of the multi-allelic serotonin-transporter-linked polymorphic region (5-HTTLPR) in the Japanese population

Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation

Nationwide survey of the secondary findings in cancer genomic profiling: survey including liquid biopsy

Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286 T > C identified as a hotspot mutation in Chinese patients with a stable natural history

Investigating common mutations in ATP7B gene and the prevalence of Wilson’s disease in the Thai population using population-based genome-wide datasets

Artificial intelligence in medical genomics

Healthy lifestyle practice correlates with decreased obesity prevalence in individuals with high polygenic risk: TMM CommCohort study

Hydrops fetalis due to loss of function of hNav1.4 channel via compound heterozygous variants

Contribution of rare variants to heritability of a disease is much greater than conventionally estimated: modification of allele distribution model

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Admixture and population structure in Mexican-Mestizos based on paternal lineages

Association between dopaminergic genes (SLC6A3 and DRD2) and stuttering among Han Chinese

Tumor-suppressive microRNAs (miR-26a/b, miR-29a/b/c and miR-218) concertedly suppressed metastasis-promoting LOXL2 in head and neck squamous cell carcinoma

Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes

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