Human Genome Variation

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

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

Announcements

Latest Collection: Editor's Selection

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

Browse articles

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
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
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
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
Genetic Creutzfeldt‒Jakob disease with 5-octapeptide repeats presented as frontotemporal dementia

Shinsuke Hamada
Ikuko Takahashi-Iwata
Ichiro Yabe
Data ReportOpen Access29 Mar 2023
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

Collections

Editor’s Selection on Splicing Variants and Copy Number Variation

Human Genome Variation is delighted to present its first Collection for the March 2019 issue. Coordinated by the Editor-in-Chief, Professor Katsushi Tokunaga, this Collection features the latest Data Reports and Articles on the identifications of disease-causing splicing variants and copy number variations.

Collection 13 Mar 2019

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