tailieunhanh - Báo cáo y học: "High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians"

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Wertheim cung cấp cho các bạn kiến thức về ngành y đề tài: High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians. | Open Access Researc h High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians Hajime Matsuzaki Pei-Hua Wang Jing Hu Rich Rava and Glenn K Fu Address Affymetrix Inc. 3420 Central Expressway Santa Clara CA 95051 USA. Correspondence Glenn K Fu. Email glenn_fu@ Published 9 November 2009 Genome Biology 2009 10 R125 doi gb-2009-10-11-r1 25 The electronic version of this article is the complete one and can be found online at http 2009 10 11 R125 Received 20 May 2009 Revised 4 September 2009 Accepted 9 November 2009 2009 Matsuzaki et al. licensee BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License http licenses by which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. Abstract Background Copy number variants CNVs account for a large proportion of genetic variation in the genome. The initial discoveries of long 100 kb CNVs in normal healthy individuals were made on BAC arrays and low resolution oligonucleotide arrays. Subsequent studies that used higher resolution microarrays and SNP genotyping arrays detected the presence of large numbers of CNVs that are 100 kb with median lengths of approximately 10 kb. More recently whole genome sequencing of individuals has revealed an abundance of shorter CNVs with lengths 1 kb. Results We used custom high density oligonucleotide arrays in whole-genome scans at approximately 200-bp resolution and followed up with a localized CNV typing array at resolutions as close as l0 bp to confirm regions from the initial genome scans and to detect the occurrence of sample-level events at shorter CNV regions identified in recent whole-genome sequencing studies. We surveyed 90 Yoruba Nigerians from the HapMap Project and uncovered approximately 2 700 potentially novel CNVs not previously reported in the literature .