The human reference genome is finally complete

Authors

DOI:

https://doi.org/10.25250/thescbr.brk721

Keywords:

Human genome, Genetics, Genomics

Abstract

Researchers rely on the human reference genome as a baseline to identify genetic differences between individuals, which are crucial for understanding human physiology, disease, and evolution. In this study, we focused on the implications of the first-ever complete human reference genome, which improves the identification of genetic variation and ushers in the beginning of a new era in genetics.

Author Biographies

Daniela C. Soto, University of California Davis

PhD student

Melanie Kirsche, Johns Hopkins University

PhD student

Stephanie M. Yan, Johns Hopkins University

PhD student

Samantha Zarate, Johns Hopkins University

PhD student

Original article reference

Aganezov, S., Yan, S. M., Soto, D. C., Kirsche, M., Zarate, S., Avdeyev, P., Taylor, D. J., Shafin, K., Shumate, A., Xiao, C., Wagner, J., McDaniel, J., Olson, N. D., Sauria, M. E. G., Vollger, M. R., Rhie, A., Meredith, M., Martin, S., Lee, J., … Schatz, M. C. (2022). A complete reference genome improves analysis of human genetic variation. Science, 376(6588). https://doi.org/10.1126/science.abl3533

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Published

2023-07-17

Issue

Vol. 9 No. 3 (2023): TheScienceBreaker

Section

Health & Physiology

License

Some rights reserved 2023 Daniela C. Soto, Melanie Kirsche, Stephanie M. Yan, Samantha Zarate

Creative Commons License

This work is licensed under a Creative Commons Attribution-ShareAlike 4.0 International License.