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Conference Paper: Comprehensive comparison of copy number variations detection using Illumina Omni 2.5M and Affymetrix CytoScan® arrays
| Title | Comprehensive comparison of copy number variations detection using Illumina Omni 2.5M and Affymetrix CytoScan® arrays |
|---|---|
| Authors | |
| Issue Date | 2013 |
| Publisher | American Society of Human Genetics (ASHG). The Poster abstracts' web site is located at http://www.ashg.org/2013meeting/pdf/46025_Poster_bookmark%20for%20Web%20final%20from%20AGS.pdf |
| Citation | The 63rd Annual Meeting of the American Society of Human Genetics (ASHG 2013), Boston, MA., 22-26 October 2013. In Poster Abstracts, 2013, p. 40, abstract no. 552T How to Cite? |
| Abstract | Structural variation has been recognized as a genetic risk factor contributing to human diseases, and in particular, congenital disorders. Smaller scale copy number variations (CNVs) have also been linked to a number of neurodevelopmental phenotypes, including intellectual disability as well as autism spectrum disorders. The precise detection of CNVs is therefore necessary for ... |
| Description | Posters: Genome Structure, Variation and Function: abstract no. 552T |
| Persistent Identifier | http://hdl.handle.net/10722/198197 |
| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Tang, SM | en_US |
| dc.contributor.author | Wong, EHM | en_US |
| dc.contributor.author | Gui, H | en_US |
| dc.contributor.author | Cherny, SS | en_US |
| dc.contributor.author | Sham, PC | en_US |
| dc.contributor.author | Tam, PKH | en_US |
| dc.contributor.author | Garcia-Barcelo, MM | en_US |
| dc.date.accessioned | 2014-06-25T02:53:36Z | - |
| dc.date.available | 2014-06-25T02:53:36Z | - |
| dc.date.issued | 2013 | en_US |
| dc.identifier.citation | The 63rd Annual Meeting of the American Society of Human Genetics (ASHG 2013), Boston, MA., 22-26 October 2013. In Poster Abstracts, 2013, p. 40, abstract no. 552T | en_US |
| dc.identifier.uri | http://hdl.handle.net/10722/198197 | - |
| dc.description | Posters: Genome Structure, Variation and Function: abstract no. 552T | - |
| dc.description.abstract | Structural variation has been recognized as a genetic risk factor contributing to human diseases, and in particular, congenital disorders. Smaller scale copy number variations (CNVs) have also been linked to a number of neurodevelopmental phenotypes, including intellectual disability as well as autism spectrum disorders. The precise detection of CNVs is therefore necessary for ... | - |
| dc.language | eng | en_US |
| dc.publisher | American Society of Human Genetics (ASHG). The Poster abstracts' web site is located at http://www.ashg.org/2013meeting/pdf/46025_Poster_bookmark%20for%20Web%20final%20from%20AGS.pdf | - |
| dc.relation.ispartof | Annual Meeting of the American Society of Human Genetics, ASHG 2013 | en_US |
| dc.title | Comprehensive comparison of copy number variations detection using Illumina Omni 2.5M and Affymetrix CytoScan® arrays | en_US |
| dc.type | Conference_Paper | en_US |
| dc.identifier.email | Tang, SM: clalatsm@hku.hk | en_US |
| dc.identifier.email | Cherny, SS: cherny@hku.hk | en_US |
| dc.identifier.email | Sham, PC: pcsham@hku.hk | en_US |
| dc.identifier.email | Tam, PKH: paultam@hku.hk | en_US |
| dc.identifier.email | Garcia-Barcelo, MM: mmgarcia@hku.hk | en_US |
| dc.identifier.authority | Cherny, SS=rp00232 | en_US |
| dc.identifier.authority | Sham, PC=rp00459 | en_US |
| dc.identifier.authority | Tam, PKH=rp00060 | en_US |
| dc.identifier.authority | Garcia-Barcelo, MM=rp00445 | en_US |
| dc.description.nature | postprint | - |
| dc.identifier.hkuros | 229378 | en_US |
| dc.identifier.spage | 40 | - |
| dc.identifier.epage | 40 | - |
| dc.publisher.place | United States | - |
