Quadruplex MAPH: improvement of throughput in high-resolution copy number screening
<p>Abstract</p> <p>Background</p> <p>Copy number variation (CNV) in the human genome is recognised as a widespread and important source of human genetic variation. Now the challenge is to screen for these CNVs at high resolution in a reliable, accurate and cost-effectiv...
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| Format: | Article |
| Language: | English |
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BMC
2009-09-01
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| Series: | BMC Genomics |
| Online Access: | http://www.biomedcentral.com/1471-2164/10/453 |
| _version_ | 1818010399224627200 |
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| author | Walker Susan Majerus Tamsin MO Tyson Jess Armour John AL |
| author_facet | Walker Susan Majerus Tamsin MO Tyson Jess Armour John AL |
| author_sort | Walker Susan |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>Copy number variation (CNV) in the human genome is recognised as a widespread and important source of human genetic variation. Now the challenge is to screen for these CNVs at high resolution in a reliable, accurate and cost-effective way.</p> <p>Results</p> <p>Multiplex Amplifiable Probe Hybridisation (MAPH) is a sensitive, high-resolution technology appropriate for screening for CNVs in a defined region, for a targeted population. We have developed MAPH to a highly multiplexed format ("QuadMAPH") that allows the user a four-fold increase in the number of loci tested simultaneously. We have used this method to analyse a genomic region of 210 kb, including the <it>MSH2 </it>gene and 120 kb of flanking DNA. We show that the QuadMAPH probes report copy number with equivalent accuracy to simplex MAPH, reliably demonstrating diploid copy number in control samples and accurately detecting deletions in Hereditary Non-Polyposis Colorectal Cancer (HNPCC) samples.</p> <p>Conclusion</p> <p>QuadMAPH is an accurate, high-resolution method that allows targeted screening of large numbers of subjects without the expense of genome-wide approaches. Whilst we have applied this technique to a region of the human genome, it is equally applicable to the genomes of other organisms.</p> |
| first_indexed | 2024-04-14T05:54:49Z |
| format | Article |
| id | doaj.art-01a912dcbffa471e87dee4b3f1e13150 |
| institution | Directory Open Access Journal |
| issn | 1471-2164 |
| language | English |
| last_indexed | 2024-04-14T05:54:49Z |
| publishDate | 2009-09-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Genomics |
| spelling | doaj.art-01a912dcbffa471e87dee4b3f1e131502022-12-22T02:08:59ZengBMCBMC Genomics1471-21642009-09-0110145310.1186/1471-2164-10-453Quadruplex MAPH: improvement of throughput in high-resolution copy number screeningWalker SusanMajerus Tamsin MOTyson JessArmour John AL<p>Abstract</p> <p>Background</p> <p>Copy number variation (CNV) in the human genome is recognised as a widespread and important source of human genetic variation. Now the challenge is to screen for these CNVs at high resolution in a reliable, accurate and cost-effective way.</p> <p>Results</p> <p>Multiplex Amplifiable Probe Hybridisation (MAPH) is a sensitive, high-resolution technology appropriate for screening for CNVs in a defined region, for a targeted population. We have developed MAPH to a highly multiplexed format ("QuadMAPH") that allows the user a four-fold increase in the number of loci tested simultaneously. We have used this method to analyse a genomic region of 210 kb, including the <it>MSH2 </it>gene and 120 kb of flanking DNA. We show that the QuadMAPH probes report copy number with equivalent accuracy to simplex MAPH, reliably demonstrating diploid copy number in control samples and accurately detecting deletions in Hereditary Non-Polyposis Colorectal Cancer (HNPCC) samples.</p> <p>Conclusion</p> <p>QuadMAPH is an accurate, high-resolution method that allows targeted screening of large numbers of subjects without the expense of genome-wide approaches. Whilst we have applied this technique to a region of the human genome, it is equally applicable to the genomes of other organisms.</p>http://www.biomedcentral.com/1471-2164/10/453 |
| spellingShingle | Walker Susan Majerus Tamsin MO Tyson Jess Armour John AL Quadruplex MAPH: improvement of throughput in high-resolution copy number screening BMC Genomics |
| title | Quadruplex MAPH: improvement of throughput in high-resolution copy number screening |
| title_full | Quadruplex MAPH: improvement of throughput in high-resolution copy number screening |
| title_fullStr | Quadruplex MAPH: improvement of throughput in high-resolution copy number screening |
| title_full_unstemmed | Quadruplex MAPH: improvement of throughput in high-resolution copy number screening |
| title_short | Quadruplex MAPH: improvement of throughput in high-resolution copy number screening |
| title_sort | quadruplex maph improvement of throughput in high resolution copy number screening |
| url | http://www.biomedcentral.com/1471-2164/10/453 |
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