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    Mobile elements have been found to mediate many structural variations in the genome. Expansion of whole-genome sequencing data has contributed to detection of mobile elements and structural variations. Recent technological and analytical development led to emergence of various methods to detect mobile elements and structural variations. Association studies of complex traits revealed causal relationship between mobile elements or structural variations and complex traits based on which we can identify novel biological insights underlying diseases and traits. There is still room for improvement in the comprehensive maps of mobile elements and structural variations and their associations. Topics of interest include: • History of classifications and detection methods of mobile elements and structural variations • Recently developed methods to sensitively detect mobile elements and structural variations • Imputation of mobile elements and structural variations and imputation panels • Associations of mobile elements and structural variations on complex traits • Causal effects of mobile elements and structural variations on complex traits • New biological insights based on mobile elements and structural variations • Mobile elements and structural variations among different human populations • Comparative genomics of mobile elements and structural variations Guest Editor: Chikashi Terao (RIKEN) Submission can be made here: https://mts-hgv.nature.com/cgi-bin/main.plex

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    It is difficult to say that the utilization of cloud computing in genomic medicine is commonplace. Many researchers are concerned about the safe use, sharing and storage of human genome data. In this special issue, the articles discuss the significance of cloud computing from various aspects, such as the technical requirements for the safe and widespread utilization of human genome data, the construction of an environment and practical examples, and a survey of public awareness. We hope that this special issue will contribute to the appropriate use of cloud computing in genomic medicine. Guest editor: Katsushi Tokunaga, National Center for Global Health and Medicine, Japan Submission Guideline: https://www.nature.com/documents/hgv-gta.pdf

  • Collection |

    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.