Journal of Human Genetics

Aims & Scope

The Journal of Human Genetics is an international journal publishing articles on human genetics, including medical genetics and human genome analysis.

It covers all aspects of human genetics, including molecular genetics, clinical genetics, behavioral genetics, immunogenetics, pharmacogenomics, population genetics, functional genomics, epigenetics, genetic counseling and gene therapy.

Articles on the following areas are especially welcome: genetic factors of monogenic and complex disorders, genome-wide association studies, genetic epidemiology, cancer genetics, personal genomics, genotype-phenotype relationships and genome diversity.

View Aims & Scope

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Metrics & Ranking

Impact Factor

Year	Value
2025	2.5
2024	2.60

SJR (SCImago Journal Rank)

Year	Value
2024	1.012

Quartile

Year	Value
2024	Q2

h-index

Year	Value
2024	96

Journal Rank

Year	Value
2024	4732

Journal Citation Indicator

Year	Value
2024	1014

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Abstracting & Indexing

Journal is indexed in leading academic databases, ensuring global visibility and accessibility of our peer-reviewed research.

• Scopus
• Google Scholar
• Web of Science
• Medline
• Embase

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Subjects & Keywords

Journal’s research areas, covering key disciplines and specialized sub-topics in Biochemistry, Genetics and Molecular Biology and Medicine, designed to support cutting-edge academic discovery.

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Most Cited Articles

The Most Cited Articles section features the journal's most impactful research, based on citation counts. These articles have been referenced frequently by other researchers, indicating their significant contribution to their respective fields.

• A genome-wide association study identifies RNF213 as the first Moyamoya disease gene

  Citation: 644

  Authors: Fumiaki, Yoko, Ayumi, Yu, Shoko, Atsuo, Junko, Tetsuya, Masao, Naoto, Yuji, Miki, Yoichi, Yoichi, Akira, Shigeru, Teiji, Yoichi, Shigeo

• The HLA genomic loci map: expression, interaction, diversity and disease

  Citation: 628

  Authors: Takashi, Kazuyoshi, Hidetoshi, Jerzy K

• Identification of a novel non-coding RNA, MIAT, that confers risk of myocardial infarction

  Citation: 556

  Authors: Nobuaki, Kouichi, Hiroshi, Hiroya, Atsushi, Yoshinari, Shiro, Naoyuki, Masatsugu, Yusuke, Toshihiro

• The promise of whole-exome sequencing in medical genetics

  Citation: 415

  Authors: Bahareh, Mustafa, Nejat

• Histone modifications for human epigenome analysis

  Citation: 410

  Authors: Hiroshi

• A high-throughput SNP typing system for genome-wide association studies

  Citation: 373

  Authors: Y., T., K., R., H., Y.

• Recent advances in RASopathies

  Citation: 313

  Authors: Yoko, Tetsuya, Shin-ichi, Yoichi

• SARS-CoV-2 genomic variations associated with mortality rate of COVID-19

  Citation: 304

  Authors: Yujiro, Kensaku, Saki, Yusuke, Kazuma

• SNP alleles in human disease and evolution

  Citation: 292

  Authors: B. S.

• Human genetic variation database, a reference database of genetic variations in the Japanese population

  Citation: 261

  Authors: Koichiro, Noriko, Jun, Kohji, Tetsuya, Hirotomo, Koichiro, Masakazu, Kazuhiko, Yoko, Yoshinori, Shinichi, Takahisa, Osuke, Keiko, Mitsuko, Jun, Maiko, Keiko, Ryo, Daisuke, Hiroyuki, Wen-Ya, Kenichiro, Takeshi, Ryo, Yoichi, Akihiro, Shoji, Naomichi, Fumihiko

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