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Phenotypically conc...
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles
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Bruder, Carl E G (author)
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Piotrowski, Arkadiusz (author)
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Gijsbers, Antoinet A C J (author)
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- Andersson, Robin (author)
- Uppsala universitet,Centrum för bioinformatik
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Erickson, Stephen (author)
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- de Ståhl, Teresita Diaz (author)
- Uppsala universitet,Institutionen för genetik och patologi
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- Menzel, Uwe (author)
- Uppsala universitet,Institutionen för genetik och patologi
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Sandgren, Johanna (author)
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von Tell, Desiree (author)
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Poplawski, Andrzej (author)
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Crowley, Michael (author)
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Crasto, Chiquito (author)
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Partridge, E Christopher (author)
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Tiwari, Hemant (author)
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Allison, David B (author)
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- Komorowski, Jan (author)
- Uppsala universitet,Centrum för bioinformatik
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van Ommen, Gert-Jan B (author)
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Boomsma, Dorret I (author)
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- Pedersen, Nancy L (author)
- Karolinska Institutet
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den Dunnen, Johan T (author)
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- Wirdefeldt, Karin (author)
- Karolinska Institutet
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- Dumanski, Jan P (author)
- Uppsala universitet,Institutionen för genetik och patologi
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(creator_code:org_t)
- Elsevier BV, 2008
- 2008
- English.
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In: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 82:3, s. 763-71
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http://www.cell.com/...
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https://urn.kb.se/re...
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Abstract
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- The exploration of copy-number variation (CNV), notably of somatic cells, is an understudied aspect of genome biology. Any differences in the genetic makeup between twins derived from the same zygote represent an irrefutable example of somatic mosaicism. We studied 19 pairs of monozygotic twins with either concordant or discordant phenotype by using two platforms for genome-wide CNV analyses and showed that CNVs exist within pairs in both groups. These findings have an impact on our views of genotypic and phenotypic diversity in monozygotic twins and suggest that CNV analysis in phenotypically discordant monozygotic twins may provide a powerful tool for identifying disease-predisposition loci. Our results also imply that caution should be exercised when interpreting disease causality of de novo CNVs found in patients based on analysis of a single tissue in routine disease-related DNA diagnostics.
Subject headings
- NATURVETENSKAP -- Biologi (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences (hsv//eng)
Keyword
- Biology
- Biologi
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Bruder, Carl E G
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Piotrowski, Arka ...
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Gijsbers, Antoin ...
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Andersson, Robin
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Erickson, Stephe ...
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de Ståhl, Teresi ...
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show more...
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Menzel, Uwe
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Sandgren, Johann ...
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von Tell, Desire ...
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Poplawski, Andrz ...
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Crowley, Michael
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Crasto, Chiquito
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Partridge, E Chr ...
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Tiwari, Hemant
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Allison, David B
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Komorowski, Jan
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van Ommen, Gert- ...
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Boomsma, Dorret ...
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Pedersen, Nancy ...
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den Dunnen, Joha ...
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Wirdefeldt, Kari ...
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Dumanski, Jan P
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show less...
- About the subject
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- NATURAL SCIENCES
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NATURAL SCIENCES
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and Biological Scien ...
- Articles in the publication
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American Journal ...
- By the university
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Uppsala University
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Karolinska Institutet