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SNP@Ethnos: a database of ethnically variant single-nucleotide polymorphisms
Inherited genetic variation plays a critical but largely uncharacterized role in human differentiation. The completion of the International HapMap Project makes it possible to identify loci that may cause human differentiation. We have devised an approach to find such ethnically variant single-nucle...
Autores principales: | , , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2007
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1747186/ https://www.ncbi.nlm.nih.gov/pubmed/17135185 http://dx.doi.org/10.1093/nar/gkl962 |
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author | Park, Jungsun Hwang, Sohyun Lee, Yong Seok Kim, Sang-Cheol Lee, Doheon |
author_facet | Park, Jungsun Hwang, Sohyun Lee, Yong Seok Kim, Sang-Cheol Lee, Doheon |
author_sort | Park, Jungsun |
collection | PubMed |
description | Inherited genetic variation plays a critical but largely uncharacterized role in human differentiation. The completion of the International HapMap Project makes it possible to identify loci that may cause human differentiation. We have devised an approach to find such ethnically variant single-nucleotide polymorphisms (ESNPs) from the genotype profile of the populations included in the International HapMap database. We selected ESNPs using the nearest shrunken centroid method (NSCM), and performed multiple tests for genetic heterogeneity and frequency spectrum on genes having ESNPs. The function and disease association of the selected SNPs were also annotated. This resulted in the identification of 100 736 SNPs that appeared uniquely in each ethnic group. Of these SNPs, 1009 were within disease-associated genes, and 85 were predicted as damaging using the Sorting Intolerant From Tolerant system. This study resulted in the creation of the SNP@Ethnos database, which is designed to make this type of detailed genetic variation approach available to a wider range of researchers. SNP@Ethnos is a public database of ESNPs with annotation information that currently contains 100 736 ESNPs from 10 138 genes, and can be accessed at and or directly at . |
format | Text |
id | pubmed-1747186 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2007 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-17471862007-02-22 SNP@Ethnos: a database of ethnically variant single-nucleotide polymorphisms Park, Jungsun Hwang, Sohyun Lee, Yong Seok Kim, Sang-Cheol Lee, Doheon Nucleic Acids Res Articles Inherited genetic variation plays a critical but largely uncharacterized role in human differentiation. The completion of the International HapMap Project makes it possible to identify loci that may cause human differentiation. We have devised an approach to find such ethnically variant single-nucleotide polymorphisms (ESNPs) from the genotype profile of the populations included in the International HapMap database. We selected ESNPs using the nearest shrunken centroid method (NSCM), and performed multiple tests for genetic heterogeneity and frequency spectrum on genes having ESNPs. The function and disease association of the selected SNPs were also annotated. This resulted in the identification of 100 736 SNPs that appeared uniquely in each ethnic group. Of these SNPs, 1009 were within disease-associated genes, and 85 were predicted as damaging using the Sorting Intolerant From Tolerant system. This study resulted in the creation of the SNP@Ethnos database, which is designed to make this type of detailed genetic variation approach available to a wider range of researchers. SNP@Ethnos is a public database of ESNPs with annotation information that currently contains 100 736 ESNPs from 10 138 genes, and can be accessed at and or directly at . Oxford University Press 2007-01 2006-11-28 /pmc/articles/PMC1747186/ /pubmed/17135185 http://dx.doi.org/10.1093/nar/gkl962 Text en © 2006 The Author(s) This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.0/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Articles Park, Jungsun Hwang, Sohyun Lee, Yong Seok Kim, Sang-Cheol Lee, Doheon SNP@Ethnos: a database of ethnically variant single-nucleotide polymorphisms |
title | SNP@Ethnos: a database of ethnically variant single-nucleotide polymorphisms |
title_full | SNP@Ethnos: a database of ethnically variant single-nucleotide polymorphisms |
title_fullStr | SNP@Ethnos: a database of ethnically variant single-nucleotide polymorphisms |
title_full_unstemmed | SNP@Ethnos: a database of ethnically variant single-nucleotide polymorphisms |
title_short | SNP@Ethnos: a database of ethnically variant single-nucleotide polymorphisms |
title_sort | snp@ethnos: a database of ethnically variant single-nucleotide polymorphisms |
topic | Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1747186/ https://www.ncbi.nlm.nih.gov/pubmed/17135185 http://dx.doi.org/10.1093/nar/gkl962 |
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