Variome

The human variome can be subdivided into smaller ethnicity specific variomes. Each variome can have a utility in terms of filtering out common ethnic specific variants in the analyses of cancer normal variants filtering for more efficient detection of somatic mutations that can be relevant to certain anti-cancer drugs. KoVariome is one such ethnic specific variome where the project uses the term variome to denote their identity and connection to the concept of the broader human variome. KoVariome founders have been affiliated with HVP since early days of HVP where Prof. Richard Cotton initiated various efforts to compile the human variome resources.

Many curated databases has been established to document the impact of clinically significant sequence variations, such as dbSNP {{cite journal|first1=Sherry|last1=Sirotkin|title=dbSNP: the NCBI database of genetic variation|journal=Nucleic Acids Research|date=2001|volume=1|issue=29|pages=308–311 |doi=10.1093/nar/29.1.308|pmid=11125122 |pmc=29783 }} or ClinVar.{{cite journal|first1=Landrum|last1=Kattman|title=ClinVar: improvements to accessing data|journal=Nucleic Acids Research|date=2019|volume=48|issue=1|pages=D835–D844 |doi=10.1093/nar/gkz972|pmid=31777943 |pmc=6943040 }} Similarly, many services have been developed by the bioinformatics community to search the literature for variants.{{cite journal|first1=Pasche|last1=Ruch|title=Variomes: a high recall search engine to support the curation of genomic variants|journal=Bioinformatics|date=2022|volume=38|issue=9|pages=2595–2601 |doi=10.1093/bioinformatics/btac146|pmid=35274687 |pmc=9048643 }}

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The blend word 'variome' is from genetic variant (“a version of a gene that differs from other versions of the same gene which may or may not have an effect on human health”) and the suffix –ome (“the complete whole of a class of substances for a species or an individual”). ‘Variomics’ (which appeared in the literature before ‘variome’) was first coined by Professor Richard ‘Dick’ Cotton in 2002 to describe (“The systematic study of the effect of genetic variation on human health”). ‘Variome’ has since been most commonly used in reference to the ‘[http://www.humanvariomeproject.org/about/about-the-human-variome-project.html Human Variome Project]’ founded four years in 2006 after ‘variomics’ was first coined.

There are a number of international project studying the human variome, including the International HapMap Project and the Human Variome Project (HVP).{{cite journal|last1=Vizzini|first1=Casimiro|title=The Human Variome Project: Global Coordination in Data Sharing|journal=Science & Diplomacy|date=March 19, 2015|volume=4|issue=1|url=http://www.sciencediplomacy.org/article/2015/human-variome-project}} The HapMap Project aims to identify and catalog genetic similarities and differences among humans. The HVP aims to collect data on all human genetic variation. The Korean Genome Project, which aims to collect all the East Asian ethnic Korean genetic variations has produced KoVariome that contains currently over 1,000 Korean whole genome variation information.{{Cite journal|last1=Jeon|first1=Sungwon|last2=Bhak|first2=Youngjune|last3=Choi|first3=Yeonsong|last4=Jeon|first4=Yeonsu|last5=Kim|first5=Seunghoon|last6=Jang|first6=Jaeyoung|last7=Jang|first7=Jinho|last8=Blazyte|first8=Asta|last9=Kim|first9=Changjae|last10=Kim|first10=Yeonkyung|last11=Shim|first11=Jungae|date=2020-05-01|title=Korean Genome Project: 1094 Korean personal genomes with clinical information|journal=Science Advances|language=en|volume=6|issue=22|pages=eaaz7835|doi=10.1126/sciadv.aaz7835|pmid=32766443|pmc=7385432|bibcode=2020SciA....6.7835J|issn=2375-2548|doi-access=free}} Turkish Genome Project has plans to analyze genomes of 100,000 people in Turkey.{{cite web |url=https://www.gtu.edu.tr/icerik/8/7148/display.aspx?languageId=2 |title=Turkish Genome Project discussed at GTU |author= |date=n.d. |website=Gebze Technical University |access-date=1 February 2024}}

• Human Variome Project
• Single nucleotide polymorphism
• DNA sequence
• International HapMap Project
• OMIM
• Omics
• DbSNP
• ClinVar

{{Reflist}}

• [http://variome.net Variome.net]: Variome information portal site.
• [http://www.variome.org/ Human Variome Project]
• [http://www.bio-itworld.com/newsitems/2006/may/05-12-06-human-variome-project "Human Variome Project Set to Launch"], May 12, 2006
• [http://www.nature.com/ng/journal/v39/n4/full/ng0407-423.html What is the Human Variome Project?]
• {{cite journal | vauthors = Ring H, Kwok P, Cotton R | title = Human Variome Project: an international collaboration to catalogue human genetic variation. | journal = Pharmacogenomics | volume = 7 | issue = 7 | pages = 969–72 | year = 2006 | pmid = 17054407 | doi = 10.2217/14622416.7.7.969}}

• [http://www.hgvs.org/ Human Genome Variation Society]
• [http://omics.org Omics.org] General Omics topics
• [http://variomics.net Variomics.net]: The earliest variomics project site
• [http://personalgenome.net PersonalGenome.net]: openfree Personal Genome project home page (Free Genome project)
• [https://www.ncbi.nlm.nih.gov/snp/ dbSNP: The Single Nucleotide Polymorphism Database]
• [https://www.ncbi.nlm.nih.gov/clinvar/ ClinVar: ClinVar archives and aggregates information about relationships among variation and human health]
• [https://variomes.text-analytics.ch/ Variomes: a high recall search engine for rare human variants]

Category:Population genetics

Category:DNA

Category:Evolutionary biology