scholarly journals The Need for a Human Pangenome Reference Sequence

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Karen H. Miga ◽  
Ting Wang
Keyword(s):  
Human Genome ◽  
Genome Sequence ◽  
Human Genetics ◽  
Genomic Diversity ◽  
Human Genome Sequence ◽  
Reference Sequence ◽  
Annual Review ◽  
Publication Date ◽  
Reference Structure ◽  
Reference Human Genome

The reference human genome sequence is inarguably the most important and widely used resource in the fields of human genetics and genomics. It has transformed the conduct of biomedical sciences and brought invaluable benefits to the understanding and improvement of human health. However, the commonly used reference sequence has profound limitations, because across much of its span, it represents the sequence of just one human haplotype. This single, monoploid reference structure presents a critical barrier to representing the broad genomic diversity in the human population. In this review, we discuss the modernization of the reference human genome sequence to a more complete reference of human genomic diversity, known as a human pangenome. Expected final online publication date for the Annual Review of Genomics and Human Genetics, Volume 22 is August 2021. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.

scholarly journals Investigating the Potential Roles of SINEs in the Human Genome

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Xiao-Ou Zhang ◽  
Henry Pratt ◽  
Zhiping Weng
Keyword(s):  
Human Genome ◽  
Human Genetics ◽  
Rna Polymerase Iii ◽  
Regulatory Elements ◽  
Annual Review ◽  
Publication Date ◽  
Regulate Gene Expression ◽  
Close Proximity ◽  
Pol Iii ◽  
Regulatory Functions

Short interspersed nuclear elements (SINEs) are nonautonomous retrotransposons that occupy approximately 13% of the human genome. They are transcribed by RNA polymerase III and can be retrotranscribed and inserted back into the genome with the help of other autonomous retroelements. Because they are preferentially located close to or within gene-rich regions, they can regulate gene expression by various mechanisms that act at both the DNA and the RNA levels. In this review, we summarize recent findings on the involvement of SINEs in different types of gene regulation and discuss the potential regulatory functions of SINEs that are in close proximity to genes, Pol III–transcribed SINE RNAs, and embedded SINE sequences within Pol II–transcribed genes in the human genome. These discoveries illustrate how the human genome has exapted some SINEs into functional regulatory elements. Expected final online publication date for the Annual Review of Genomics and Human Genetics Volume 22 is August 2021. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.

scholarly journals Toward a Complete Human Genome Sequence

1998 ◽  
Vol 8 (11) ◽  
pp. 1097-1108 ◽  
Author(s):  
The Sanger Centre ◽  
The Washington University Genome Sequencing Cente
Keyword(s):  
Human Genome ◽  
Genome Sequence ◽  
Human Genome Sequence

scholarly journals The tweenage human genome sequence

2011 ◽  
Vol 17 (2) ◽  
pp. 155-155
Author(s):  
Ewen Kirkness
Keyword(s):  
Human Genome ◽  
Genome Sequence ◽  
Human Genome Sequence

scholarly journals I’ll Show You Mine, If You Show Me Yours

2001 ◽  
Vol 1 ◽  
pp. 33-33
Keyword(s):  
Human Genome ◽  
Genome Sequence ◽  
Human Genome Project ◽  
Genome Project ◽  
Human Genome Sequence ◽  
Publicly Funded ◽  
Private Company ◽  
Science News

The human genome dominated science news last week. Both Science and Nature lead this week with articles about the simultaneous publication of the human genome sequence by the private company Celera Genomics and the publicly funded Human Genome Project (HGP).

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