scholarly journals Human Genome Organisation

2020 ◽  
Author(s):  
Keyword(s):  
Human Genome ◽  
Genome Organisation ◽  
Human Genome Organisation

scholarly journals The Human Genome Organisation (HUGO) and the 2020 COVID-19 pandemic

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Benjamin Capps ◽  
◽  
Yann Joly ◽  
John Mulvihill ◽  
Won Bok Lee
Keyword(s):  
Human Genome ◽  
Law And Society ◽  
Genome Organisation ◽  
Global Response ◽  
Genomics Research ◽  
Human Genome Organisation ◽  
Ethics Law

AbstractThis letter is the Human Genome Organisation’s summary reaction to the 2020 COVID-19 pandemic. It identifies key areas for genomics research, and areas in which genomic scientists can contribute to a global response to the pandemic. The letter has been reviewed and endorsed by the HUGO Committee on Ethics, Law and Society (CELS) and the HUGO Council.

The Human Genome Organization (HUGO)

1997 ◽  
Vol 16 (1) ◽  
pp. 127-129 ◽  
Author(s):  
Bartha Maria Knoppers ◽  
Lori Luther
Keyword(s):  
Human Genome ◽  
Human Genome Project ◽  
Genome Organization ◽  
Genome Project ◽  
Genome Organisation ◽  
Human Genome Organisation ◽  
Membership Organization ◽  
The Human Genome Project ◽  
Genome Information

The Human Genome Organisation (HUGO) is an international membership organization (with 965 current members in 50 countries) whose goal is to coordinate and enhance efforts in the Human Genome Project (HGP). Formally established in 1989 by a group of the world's leading scientists in order to promote genome activities internationally, HUGO operates as a global coordinating organization to create the networks and channels through which genome information, initiatives, and ideas can flow and be disseminated.

scholarly journals The Human Genome Organisation: towards next-generation ethics

10.1186/gm442 ◽  
2013 ◽  
Vol 5 (4) ◽  
pp. 38 ◽  
Author(s):  
Bartha Knoppers ◽  
Adrian Thorogood ◽  
Ruth Chadwick
Keyword(s):  
Human Genome ◽  
Genome Organisation ◽  
Next Generation ◽  
Human Genome Organisation

Megabase Replication Domains Along the Human Genome: Relation to Chromatin Structure and Genome Organisation

2012 ◽  
pp. 57-80 ◽  
Author(s):  
Benjamin Audit ◽  
Lamia Zaghloul ◽  
Antoine Baker ◽  
Alain Arneodo ◽  
Chun-Long Chen ◽  
...  
Keyword(s):  
Human Genome ◽  
Chromatin Structure ◽  
Genome Organisation

scholarly journals Annotating the Function of the Human Genome with Gene Ontology and Disease Ontology

2016 ◽  
Vol 2016 ◽  
pp. 1-8 ◽  
Author(s):  
Yang Hu ◽  
Wenyang Zhou ◽  
Jun Ren ◽  
Lixiang Dong ◽  
Yadong Wang ◽  
...  
Keyword(s):  
Human Genome ◽  
Pearson Correlation ◽  
Function Annotation ◽  
Systematic Analysis ◽  
Individual Gene ◽  
Human Genes ◽  
Human Genome Organisation ◽  
Mining Tool ◽  
High Consistency ◽  
Text Mining Tool

Increasing evidences indicated that function annotation of human genome in molecular level and phenotype level is very important for systematic analysis of genes. In this study, we presented a framework named Gene2Function to annotate Gene Reference into Functions (GeneRIFs), in which each functional description of GeneRIFs could be annotated by a text mining tool Open Biomedical Annotator (OBA), and each Entrez gene could be mapped to Human Genome Organisation Gene Nomenclature Committee (HGNC) gene symbol. After annotating all the records about human genes of GeneRIFs, 288,869 associations between 13,148 mRNAs and 7,182 terms, 9,496 associations between 948 microRNAs and 533 terms, and 901 associations between 139 long noncoding RNAs (lncRNAs) and 297 terms were obtained as a comprehensive annotation resource of human genome. High consistency of term frequency of individual gene (Pearson correlation = 0.6401,p=2.2e-16) and gene frequency of individual term (Pearson correlation = 0.1298,p=3.686e-14) in GeneRIFs and GOA shows our annotation resource is very reliable.

DNA methylation in satellite repeats disorders

2019 ◽  
Vol 63 (6) ◽  
pp. 757-771 ◽  
Author(s):  
Claire Francastel ◽  
Frédérique Magdinier
Keyword(s):  
Dna Methylation ◽  
Human Genome ◽  
Repetitive Dna ◽  
Dna Sequences ◽  
Satellite Repeats ◽  
Tremendous Progress ◽  
Genes Encoding ◽  
Dna Elements ◽  
Near Future

Abstract Despite the tremendous progress made in recent years in assembling the human genome, tandemly repeated DNA elements remain poorly characterized. These sequences account for the vast majority of methylated sites in the human genome and their methylated state is necessary for this repetitive DNA to function properly and to maintain genome integrity. Furthermore, recent advances highlight the emerging role of these sequences in regulating the functions of the human genome and its variability during evolution, among individuals, or in disease susceptibility. In addition, a number of inherited rare diseases are directly linked to the alteration of some of these repetitive DNA sequences, either through changes in the organization or size of the tandem repeat arrays or through mutations in genes encoding chromatin modifiers involved in the epigenetic regulation of these elements. Although largely overlooked so far in the functional annotation of the human genome, satellite elements play key roles in its architectural and topological organization. This includes functions as boundary elements delimitating functional domains or assembly of repressive nuclear compartments, with local or distal impact on gene expression. Thus, the consideration of satellite repeats organization and their associated epigenetic landmarks, including DNA methylation (DNAme), will become unavoidable in the near future to fully decipher human phenotypes and associated diseases.

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