title: Germline copy number polymorphisms involving larger than 100 kb are uncommon in normal subjects.
abstract: BACKGROUND
  Recent studies using ROMA and Array-CGH suggest that germline copy number polymorphisms (CNPs) involving >100 kb are common in humans.
  
  
  METHODS
  In this study, we used the Affymetrix GeneChip 100K single nucleotide polymorphisms (SNP) mapping panel to further examine the type and frequency of germline CNPs in the genome. By utilizing the allele intensity data generated while genotyping approximately 116,000 SNPs among 23 subjects from 4 families, we were able to detect multiple CNPs.
  
  
  RESULTS
  However, in contrast to several previous studies, we found that CNPs >100 kb are rare in the genome but CNPs involving 100s-1,000s of base pairs are more common.
  
  
  CONCLUSIONS
  We have demonstrated the utility of this approach, which has an important advantage over other methods because it is able to simultaneously assess both CNPs and SNPs, and therefore has great potential in genetic association studies of common diseases.
authors.affiliation: Center for Human Genomics, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA
authors.forename: Wennuan
authors.initials: W
authors.lastname: Liu
authors.forename: Baoli
authors.initials: B
authors.lastname: Chang
authors.forename: Tao
authors.initials: T
authors.lastname: Li
authors.forename: Latchezar
authors.initials: L
authors.lastname: Dimitrov
authors.forename: Seungchan
authors.initials: S
authors.lastname: Kim
authors.forename: Jin Woo
authors.initials: JW
authors.lastname: Kim
authors.forename: Aubrey R
authors.initials: AR
authors.lastname: Turner
authors.forename: Deborah A
authors.initials: DA
authors.lastname: Meyers
authors.forename: Jeffery M
authors.initials: JM
authors.lastname: Trent
authors.forename: Siqun Lilly
authors.initials: SL
authors.lastname: Zheng
authors.forename: William B
authors.initials: WB
authors.lastname: Isaacs
authors.forename: Jianfeng
authors.initials: J
authors.lastname: Xu
mesh_terms: D000483:Alleles; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D018628:Gene Dosage; D006801:Humans; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide; D011471:Prostatic Neoplasms / Q000235:genetics*
chemical_list: D004273:DNA, Neoplasm