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A Look Back at 20 Years of Human Genomics

  2. COVID-19, which is caused by the SARS-CoV-2, has ravaged the world for the past 2 years. Here, we review the current state of research into the disease with focus on its history, human genetics and genomics an...

    Authors: Michela Biancolella, Vito Luigi Colona, Ruty Mehrian-Shai, Jessica Lee Watt, Lucio Luzzatto, Giuseppe Novelli and Juergen K. V. Reichardt
    Citation: Human Genomics 2022 16:19
    Content type: Review Published on:

  3. The severity of coronavirus disease 2019 (COVID-19) caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is highly heterogeneous. Studies have reported that males and some ethnic groups a...

    Authors: Jianchang Hu, Cai Li, Shiying Wang, Ting Li and Heping Zhang
    Citation: Human Genomics 2021 15:10
    Content type: Primary research Published on:

  4. The emergence of the novel coronavirus in Wuhan, Hubei Province, China, in December 2019 marked the synchronization of the world to a peculiar clock that is counting infected cases and deaths instead of hours ...

    Authors: Cleo Anastassopoulou, Zoi Gkizarioti, George P. Patrinos and Athanasios Tsakris
    Citation: Human Genomics 2020 14:40
    Content type: Review Published on:

  5. The X chromosome and X-linked variants have largely been ignored in genome-wide and candidate association studies of infectious diseases due to the complexity of statistical analysis of the X chromosome. This ...

    Authors: Haiko Schurz, Muneeb Salie, Gerard Tromp, Eileen G. Hoal, Craig J. Kinnear and Marlo Möller
    Citation: Human Genomics 2019 13:2
    Content type: Review Published on:

  7. Neurofibromatosis type 1 (NF1: Online Mendelian Inheritance in Man (OMIM) #162200) is an autosomal dominantly inherited tumour predisposition syndrome. Heritable constitutional mutations in the NF1 gene result in...

    Authors: Charlotte Philpott, Hannah Tovell, Ian M. Frayling, David N. Cooper and Meena Upadhyaya
    Citation: Human Genomics 2017 11:13
    Content type: Review Published on:

  8. Members of the lymphocyte antigen-6 (Ly6)/urokinase-type plasminogen activator receptor (uPAR) superfamily of proteins are cysteine-rich proteins characterized by a distinct disulfide bridge pattern that creat...

    Authors: Chelsea L. Loughner, Elspeth A. Bruford, Monica S. McAndrews, Emili E. Delp, Sudha Swamynathan and Shivalingappa K. Swamynathan
    Citation: Human Genomics 2016 10:10
    Content type: Gene family update Published on:

  9. This review explores the limitations of self-reported race, ethnicity, and genetic ancestry in biomedical research. Various terminologies are used to classify human differences in genomic research including ra...

    Authors: Tesfaye B Mersha and Tilahun Abebe
    Citation: Human Genomics 2015 9:1
    Content type: Review Published on:

    The Correction to this article has been published in Human Genomics 2021 15:35

  10. As the number of non-synonymous single nucleotide polymorphisms (nsSNPs) identified through whole-exome/whole-genome sequencing programs increases, researchers and clinicians are becoming increasingly reliant ...

    Authors: Hashem A Shihab, Julian Gough, Matthew Mort, David N Cooper, Ian NM Day and Tom R Gaunt
    Citation: Human Genomics 2014 8:11
    Content type: Primary research Published on:

  11. The Kelch-like (KLHL) gene family encodes a group of proteins that generally possess a BTB/POZ domain, a BACK domain, and five to six Kelch motifs. BTB domains facilitate protein binding and dimerization. The ...

    Authors: Bajinder S Dhanoa, Tiziana Cogliati, Akhila G Satish, Elspeth A Bruford and James S Friedman
    Citation: Human Genomics 2013 7:13
    Content type: Gene family update Published on:

  12. Enzyme-mediated disulfide bond formation is a highly conserved process affecting over one-third of all eukaryotic proteins. The enzymes primarily responsible for facilitating thiol-disulfide exchange are membe...

    Authors: James J Galligan and Dennis R Petersen
    Citation: Human Genomics 2012 6:6
    Content type: Gene family update Published on:

  14. Cytokines play a very important role in nearly all aspects of inflammation and immunity. The term 'interleukin' (IL) has been used to describe a group of cytokines with complex immunomodulatory functions -- in...

    Authors: Chad Brocker, David Thompson, Akiko Matsumoto, Daniel W Nebert and Vasilis Vasiliou
    Citation: Human Genomics 2010 5:30
    Content type: Genome update Published on:

  15. The Cytochrome P450 Homepage is a universal resource for nomenclature and sequence information on cytochrome P450 (CYP) genes. The site has been in continuous operation since February 1995. Currently, naming info...

    Authors: David R. Nelson
    Citation: Human Genomics 2009 4:59
    Content type: Genome databases Published on:

  16. There exist four fundamentally different classes of membrane-bound transport proteins: ion channels; transporters; aquaporins; and ATP-powered pumps. ATP-binding cassette (ABC) transporters are an example of A...

    Authors: Vasilis Vasiliou, Konstandinos Vasiliou and Daniel W. Nebert
    Citation: Human Genomics 2009 3:281
    Content type: Genome review Published on:

  17. The NAD(P)H:quinone acceptor oxidoreductase (NQO) gene family belongs to the flavoprotein clan and, in the human genome, consists of two genes (NQO1 and NQO2). These two genes encode cytosolic flavoenzymes that c...

    Authors: Vasilis Vasiliou, David Ross and Daniel W. Nebert
    Citation: Human Genomics 2006 2:329
    Content type: Genome update Published on:

  19. The glutathione S-transferase (GST) gene family encodes genes that are critical for certain life processes, as well as for detoxication and toxification mechanisms, via conjugation of reduced glutathione (GSH) wi...

    Authors: Daniel W Nebert and Vasilis Vasiliou
    Citation: Human Genomics 2004 1:460
    Content type: Genome update Published on: