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  • De Bustos, CeciliaUppsala universitet,Institutionen för genetik och patologi (author)

Analysis of copy number variation in normal human population within a region containing complex segmental duplications on 22q11 using high resolution array-CGH

  • Article/chapterEnglish2006

Publisher, publication year, extent ...

  • Elsevier BV,2006
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:uu-94128
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-94128URI
  • https://doi.org/10.1016/j.ygeno.2006.03.016DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:1930618URI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • A previously detected copy number polymorphism (Ep CNP) in patients affected with neuroectodermal tumors led us to investigate its frequency and length in the normal population. For this purpose, a program called Sequence Allocator was developed and applied for the construction of an array that consisted of unique and duplicated fragments, allowing the assessment of copy number variation within regions of segmental duplications. The average resolution of this array was 11 kb and we determined the size of the Ep CNP to be 290 kb. Analysis of normal controls identified 7.7 and 7.1% gains in peripheral blood and lymphoblastoid cell line (LCL) DNA, respectively, while deletions were found only in the LCL group (7.1%). This array platform allows the detection of DNA copy number variation within regions of pronounced genomic complexity, which constitutes an improvement over available technologies.

Subject headings and genre

  • Comparative genomic hybridization; Segmental duplications; Human chromosome 22; Copy number polymorphism; Human variation
  • Ependymoma
  • Neuroectodermal tumors
  • Low-copy repeats
  • CRYBB2
  • LRP5

Added entries (persons, corporate bodies, meetings, titles ...)

  • de Stahl, Teresita DiazUppsala universitet,Institutionen för genetik och patologi (author)
  • Piotrowski, ArkadiuszUppsala universitet,Institutionen för genetik och patologi (author)
  • Mantripragada, Kiran KUppsala universitet,Institutionen för genetik och patologi (author)
  • Buckley, Patrick GUppsala universitet,Institutionen för genetik och patologi (author)
  • Darai, EvaKarolinska Institutet (author)
  • Hansson, CaisaUppsala universitet,Institutionen för genetik och patologi (author)
  • Grigelionis, GintautasUppsala universitet,Institutionen för genetik och patologi (author)
  • Menzel, UweUppsala universitet,Institutionen för genetik och patologi (author)
  • Dumanski, Jan PUppsala universitet,Institutionen för genetik och patologi(Swepub:uu)janduman (author)
  • Uppsala universitetInstitutionen för genetik och patologi (creator_code:org_t)

Related titles

  • In:Genomics: Elsevier BV88:2, s. 152-1620888-75431089-8646

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