uu.seUppsala University Publications
Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
Transcriptome and genome sequencing uncovers functional variation in humans
Show others and affiliations
2013 (English)In: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 501, no 7468, 506-511 p.Article in journal (Refereed) Published
Abstract [en]

Genome sequencing projects are discovering millions of genetic variants in humans, and interpretation of their functional effects is essential for understanding the genetic basis of variation in human traits. Here we report sequencing and deep analysis of messenger RNA and microRNA from lymphoblastoid cell lines of 462 individuals from the 1000 Genomes Project-the first uniformly processed high-throughput RNA-sequencing data from multiple human populations with high-quality genome sequences. We discover extremely widespread genetic variation affecting the regulation of most genes, with transcript structure and expression level variation being equally common but genetically largely independent. Our characterization of causal regulatory variation sheds light on the cellular mechanisms of regulatory and loss-of-function variation, and allows us to infer putative causal variants for dozens of disease-associated loci. Altogether, this study provides a deep understanding of the cellular mechanisms of transcriptome variation and of the landscape of functional variants in the human genome.

Place, publisher, year, edition, pages
2013. Vol. 501, no 7468, 506-511 p.
National Category
Genetics Medical Genetics Bioinformatics and Systems Biology
Identifiers
URN: urn:nbn:se:uu:diva-207901DOI: 10.1038/nature12531ISI: 000324826300049PubMedID: 24037378OAI: oai:DiVA.org:uu-207901DiVA: diva2:650242
Available from: 2013-09-20 Created: 2013-09-20 Last updated: 2017-12-06Bibliographically approved

Open Access in DiVA

No full text

Other links

Publisher's full textPubMed

Authority records BETA

Almlöf, JonasKarlberg, OlofSyvänen, Ann-Christine

Search in DiVA

By author/editor
Almlöf, JonasKarlberg, OlofSyvänen, Ann-Christine
By organisation
Molecular MedicineScience for Life Laboratory, SciLifeLab
In the same journal
Nature
GeneticsMedical GeneticsBioinformatics and Systems Biology

Search outside of DiVA

GoogleGoogle Scholar

doi
pubmed
urn-nbn

Altmetric score

doi
pubmed
urn-nbn
Total: 389 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf