Special Issue: Different Aspects of Cloud Computing for Genome Medicine

In this special issue, authors discuss the significance of cloud computing from various aspects, such as - technical requirements for safe and widespread utilization of human genome data...​

Featured

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  Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder

  • Toru Sonoyama
  • Takashi Ishino
  • Sachio Takeno

  Data ReportOpen Access13 Apr 2023
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  A novel variant in NBAS identified from an infant with fever-triggered recurrent acute liver failure disrupts the function of the gene

  • Juhua Ji
  • Mingming Yang
  • Xin Chu

  ArticleOpen Access13 Apr 2023
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  Public attitudes toward cloud computing and willingness to share personal health records (PHRs) and genome data for health care research in Japan

  • Mayumi Kusunose
  • Kaori Muto

  ArticleOpen Access30 Mar 2023

Announcements

• Latest Collection: Editor's Selection

  Human Genome Variation is delighted to present its first Collection for the March 2019 issue.

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• Guide to Authors

  

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Browse articles

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  A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family

  • Asia Parveen
  • Muhammad Tariq
  • Naveed Wasif

  Data ReportOpen Access23 May 2023
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  Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform

  • Yanqiu Liu
  • Liangwei Mao
  • Xiaoming Wei

  ArticleOpen Access22 May 2023
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  A novel compound heterozygous of β-thalassemia with HbG-Coushatta: case report of Iran

  • Narges Soozangar
  • Ehsan Abbaspour
  • Behzad Davarnia

  Data ReportOpen Access15 May 2023
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  Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder

  • Toru Sonoyama
  • Takashi Ishino
  • Sachio Takeno

  Data ReportOpen Access13 Apr 2023
• 

  A novel variant in NBAS identified from an infant with fever-triggered recurrent acute liver failure disrupts the function of the gene

  • Juhua Ji
  • Mingming Yang
  • Xin Chu

  ArticleOpen Access13 Apr 2023
• 

  Public attitudes toward cloud computing and willingness to share personal health records (PHRs) and genome data for health care research in Japan

  • Mayumi Kusunose
  • Kaori Muto

  ArticleOpen Access30 Mar 2023
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  Genetic Creutzfeldt‒Jakob disease with 5-octapeptide repeats presented as frontotemporal dementia

  • Shinsuke Hamada
  • Ikuko Takahashi-Iwata
  • Ichiro Yabe

  Data ReportOpen Access29 Mar 2023
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  A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene

  • Hazuki Morikawa
  • Sachiko Nishina
  • Yoshihiro Hotta

  Data ReportOpen Access24 Mar 2023

• Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis

  • Erina Nakahara
  • Keiko Shimojima Yamamoto
  • Hitoshi Kanno

  ArticleOpen Access02 Mar 2023

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  A reference catalog of DNA palindromes in the human genome and their variations in 1000 Genomes

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  Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform

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