Somatic mosaicism for copy number variation in differentiated human tissues

Research output: Contribution to journalJournal articleResearchpeer-review

  • Arkadiusz Piotrowski
  • Carl E G Bruder
  • Andersson, Robin
  • Teresita Diaz de Ståhl
  • Uwe Menzel
  • Johanna Sandgren
  • Andrzej Poplawski
  • Desiree von Tell
  • Chiquito Crasto
  • Adam Bogdan
  • Rafal Bartoszewski
  • Zsuzsa Bebok
  • Maciej Krzyzanowski
  • Zbigniew Jankowski
  • E Christopher Partridge
  • Jan Komorowski
  • Jan P Dumanski
Two major types of genetic variation are known: single nucleotide polymorphisms (SNPs), and a more recently discovered structural variation, involving changes in copy number (CNVs) of kilobase- to megabase-sized chromosomal segments. It is unknown whether CNVs arise in somatic cells, but it is, however, generally assumed that normal cells are genetically identical. We tested 34 tissue samples from three subjects and, having analyzed for each tissue
Original languageEnglish
JournalHuman Mutation
Volume29
Issue number9
Pages (from-to)1118-24
Number of pages7
ISSN1059-7794
DOIs
Publication statusPublished - Sep 2008
Externally publishedYes

    Research areas

  • Adult, Chromosomes, Human, Gene Dosage, Genetic Predisposition to Disease, Genomics, Humans, Mosaicism, Oligonucleotide Array Sequence Analysis, Organ Specificity, Polymorphism, Genetic, Tissue Distribution

ID: 106775975