Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • 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
An extended set of yeast-based functional assays accurately identifies human disease mutations
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology. Univ Toronto, Donnelly Ctr, Toronto, ON M5S 3E1, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON M5S 3E1, Canada.;Univ Toronto, Dept Comp Sci, Toronto, ON M5S 3E1, Canada.;Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON M5G 1X5, Canada..
Univ Toronto, Donnelly Ctr, Toronto, ON M5S 3E1, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON M5S 3E1, Canada.;Univ Toronto, Dept Comp Sci, Toronto, ON M5S 3E1, Canada.;Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON M5G 1X5, Canada..
Univ Toronto, Donnelly Ctr, Toronto, ON M5S 3E1, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON M5S 3E1, Canada..
Univ Toronto, Donnelly Ctr, Toronto, ON M5S 3E1, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON M5S 3E1, Canada..
Show others and affiliations
2016 (English)In: Genome Research, ISSN 1088-9051, E-ISSN 1549-5469, Vol. 26, no 5, 670-680 p.Article in journal (Refereed) Published
Resource type
Text
Abstract [en]

We can now routinely identify coding variants within individual human genomes. A pressing challenge is to determine which variants disrupt the function of disease-associated genes. Both experimental and computational methods exist to predict pathogenicity of human genetic variation. However, a systematic performance comparison between them has been lacking. Therefore, we developed and exploited a panel of 26 yeast-based functional complementation assays to measure the impact of 179 variants (101 disease-and 78 non-disease-associated variants) from 22 human disease genes. Using the resulting reference standard, we show that experimental functional assays in a 1-billion-year diverged model organism can identify pathogenic alleles with significantly higher precision and specificity than current computational methods.

Place, publisher, year, edition, pages
2016. Vol. 26, no 5, 670-680 p.
National Category
Basic Medicine
Identifiers
URN: urn:nbn:se:uu:diva-297290DOI: 10.1101/gr.192526.115ISI: 000375328000010PubMedID: 26975778OAI: oai:DiVA.org:uu-297290DiVA: diva2:941473
Funder
Swedish Research Council
Available from: 2016-06-22 Created: 2016-06-22 Last updated: 2017-11-28Bibliographically approved

Open Access in DiVA

fulltext(546 kB)180 downloads
File information
File name FULLTEXT01.pdfFile size 546 kBChecksum SHA-512
3295956ffdd6380ced4ca1fd446c868b6c0e1fb8c187a187eb4848d43236149b8088f1afe93fac5396bbe4ba2d8d13f6f382c25b40fd7b8ceec1a56c4167232b
Type fulltextMimetype application/pdf

Other links

Publisher's full textPubMed
By organisation
Department of Medical Biochemistry and Microbiology
In the same journal
Genome Research
Basic Medicine

Search outside of DiVA

GoogleGoogle Scholar
Total: 180 downloads
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

doi
pubmed
urn-nbn

Altmetric score

doi
pubmed
urn-nbn
Total: 502 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • 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