Human Genome Variation

Genetic variability in COVID-19-related genes in the Brazilian population

SARS-CoV-2 utilizes the angiotensin-converting enzyme 2 (ACE2) receptor and transmembrane serine protease (TMPRSS2) to infect human lung cells.

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Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease
Keiko Yamamoto-Shimojima
Hiroyuki Akagawa
Toshiyuki Yamamoto

Data Report Open Access 01 Apr 2021

Announcements

Latest Collection: Editor's Selection

Human Genome Variation is delighted to present its first Collection for the March 2019 issue.
Covid-19 impact on peer review

As a result of the significant disruption that is being caused by the COVID-19 pandemic we are very aware that many researchers will have difficulty in meeting the timelines associated with our peer review process during normal times. Please do let us know if you need additional time.

Browse articles

Genetic variability in COVID-19-related genes in the Brazilian population
Rodrigo Secolin
Tânia K. de Araujo
Iscia Lopes-Cendes

Article Open Access 02 Apr 2021
Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease
Keiko Yamamoto-Shimojima
Hiroyuki Akagawa
Toshiyuki Yamamoto

Data Report Open Access 01 Apr 2021
Venous thromboembolism is caused by prothrombin p.Arg541Trp mutation in Japanese individuals
Jumpei Yamamoto
Masaya Yamamoto
Norihiro Kato

Data Report Open Access 31 Mar 2021
Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis
Natarajan N. Srikrupa
Sarangapani Sripriya
Sinnakaruppan Mathavan

Data Report Open Access 29 Mar 2021
The Y chromosome ancestry marker R1b1b2: a surrogate of the SARS-CoV-2 population affinity
Muntaser Ibrahim
Abdalhameed Salih

Data Report Open Access 18 Feb 2021
MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene
Kei Wakabayashi
Hitoshi Osaka
Takanori Yamagata

Data Report Open Access 16 Feb 2021
Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer
Mike M. Moradian
Davit T. Babikyan
Tamara F. Sarkisian

Article Open Access 09 Feb 2021
Novel ARG1 variants identified in a patient with arginase 1 deficiency
Katsuyuki Yokoi
Yoko Nakajima
Tetsuya Ito

Data Report Open Access 04 Feb 2021
Prevalence of pharmacogenomic variants in 100 pharmacogenes among Southeast Asian populations under the collaboration of the Southeast Asian Pharmacogenomics Research Network (SEAPharm)
Chakkaphan Runcharoen
Koya Fukunaga
Wasun Chantratita

Data Report Open Access 04 Feb 2021

Collections

Editor’s Selection on Splicing Variants and Copy Number Variation

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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