Asian Science Citation Index is committed to provide an authoritative, trusted and significant information by the coverage of the most important and influential journals to meet the needs of the global scientific community.  
ASCI Database
308-Lasani Town,
Sargodha Road,
Faisalabad, Pakistan
Fax: +92-41-8815544
Contact Via Web
Suggest a Journal
 
Articles by N. B Spinner
Total Records ( 1 ) for N. B Spinner
  T. H Shaikh , X Gai , J. C Perin , J. T Glessner , H Xie , K Murphy , R O'Hara , T Casalunovo , L. K Conlin , M D'Arcy , E. C Frackelton , E. A Geiger , C Haldeman Englert , M Imielinski , C. E Kim , L Medne , K Annaiah , J. P Bradfield , E Dabaghyan , A Eckert , C. C Onyiah , S Ostapenko , F. G Otieno , E Santa , J. L Shaner , R Skraban , R. M Smith , J Elia , E Goldmuntz , N. B Spinner , E. H Zackai , R. M Chiavacci , R Grundmeier , E. F Rappaport , S. F.A Grant , P. S White and H. Hakonarson
 

We present a database of copy number variations (CNVs) detected in 2026 disease-free individuals, using high-density, SNP-based oligonucleotide microarrays. This large cohort, comprised mainly of Caucasians (65.2%) and African-Americans (34.2%), was analyzed for CNVs in a single study using a uniform array platform and computational process. We have catalogued and characterized 54,462 individual CNVs, 77.8% of which were identified in multiple unrelated individuals. These nonunique CNVs mapped to 3272 distinct regions of genomic variation spanning 5.9% of the genome; 51.5% of these were previously unreported, and >85% are rare. Our annotation and analysis confirmed and extended previously reported correlations between CNVs and several genomic features such as repetitive DNA elements, segmental duplications, and genes. We demonstrate the utility of this data set in distinguishing CNVs with pathologic significance from normal variants. Together, this analysis and annotation provides a useful resource to assist with the assessment of CNVs in the contexts of human variation, disease susceptibility, and clinical molecular diagnostics.

 
 
 
Copyright   |   Desclaimer   |    Privacy Policy   |   Browsers   |   Accessibility