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A framework for exhaustively mapping functional missense variants

Weile, Jochen (author)
Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON, Canada.;Univ Toronto, Donnelly Ctr, Toronto, ON, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON, Canada.;Univ Toronto, Dept Comp Sci, Toronto, ON, Canada.
Sun, Song (author)
Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON, Canada.;Univ Toronto, Donnelly Ctr, Toronto, ON, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON, Canada.;Univ Toronto, Dept Comp Sci, Toronto, ON, Canada.
Cote, Atina G. (author)
Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON, Canada.;Univ Toronto, Donnelly Ctr, Toronto, ON, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON, Canada.
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Knapp, Jennifer (author)
Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON, Canada.;Univ Toronto, Donnelly Ctr, Toronto, ON, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON, Canada.
Verby, Marta (author)
Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON, Canada.;Univ Toronto, Donnelly Ctr, Toronto, ON, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON, Canada.
Mellor, Joseph C. (author)
Univ Toronto, Donnelly Ctr, Toronto, ON, Canada.;SeqWell Inc, Boston, MA USA.
Wu, Yingzhou (author)
Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON, Canada.;Univ Toronto, Donnelly Ctr, Toronto, ON, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON, Canada.;Univ Toronto, Dept Comp Sci, Toronto, ON, Canada.
Pons, Carles (author)
Barcelona Inst Sci & Technol, Inst Res Biomed IRB Barcelona, Barcelona, Catalonia, Spain.
Wong, Cassandra (author)
Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON, Canada.;Univ Toronto, Donnelly Ctr, Toronto, ON, Canada.
van Lieshout, Natascha (author)
Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON, Canada.
Yang, Fan (author)
Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON, Canada.;Univ Toronto, Donnelly Ctr, Toronto, ON, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON, Canada.;Univ Toronto, Dept Comp Sci, Toronto, ON, Canada.
Tasan, Murat (author)
Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON, Canada.;Univ Toronto, Donnelly Ctr, Toronto, ON, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON, Canada.;Univ Toronto, Dept Comp Sci, Toronto, ON, Canada.
Tan, Guihong (author)
Univ Toronto, Donnelly Ctr, Toronto, ON, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON, Canada.
Yang, Shan (author)
Invitae Corp, San Francisco, CA USA.
Fowler, Douglas M. (author)
Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA.
Nussbaum, Robert (author)
Invitae Corp, San Francisco, CA USA.
Bloom, Jesse D. (author)
Fred Hutchinson Res Ctr, Seattle, WA USA.
Vidal, Marc (author)
Dana Farber Canc Inst, CCSB, Boston, MA 02115 USA.;Harvard Med Sch, Dept Genet, Boston, MA USA.
Hill, David E. (author)
Dana Farber Canc Inst, CCSB, Boston, MA 02115 USA.
Aloy, Patrick (author)
Barcelona Inst Sci & Technol, Inst Res Biomed IRB Barcelona, Barcelona, Catalonia, Spain.;ICREA, Barcelona, Catalonia, Spain.
Roth, Frederick P. (author)
Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON, Canada.;Univ Toronto, Donnelly Ctr, Toronto, ON, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON, Canada.;Univ Toronto, Dept Comp Sci, Toronto, ON, Canada.;Canadian Inst Adv Res, Toronto, ON, Canada.
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Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON, Canada;Univ Toronto, Donnelly Ctr, Toronto, ON, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON, Canada.;Univ Toronto, Dept Comp Sci, Toronto, ON, Canada. Institutionen för medicinsk biokemi och mikrobiologi (creator_code:org_t)
2017-12-21
2017
English.
In: Molecular Systems Biology. - : WILEY. - 1744-4292 .- 1744-4292. ; 13:12
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  • Journal article (peer-reviewed)
Abstract Subject headings
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  • Although we now routinely sequence human genomes, we can confidently identify only a fraction of the sequence variants that have a functional impact. Here, we developed a deep mutational scanning framework that produces exhaustive maps for human missense variants by combining random codon mutagenesis and multiplexed functional variation assays with computational imputation and refinement. We applied this framework to four proteins corresponding to six human genes: UBE2I (encoding SUMO E2 conjugase), SUMO1 (small ubiquitin-like modifier), TPK1 (thiamin pyrophosphokinase), and CALM1/2/3 (three genes encoding the protein calmodulin). The resulting maps recapitulate known protein features and confidently identify pathogenic variation. Assays potentially amenable to deep mutational scanning are already available for 57% of human disease genes, suggesting that DMS could ultimately map functional variation for all human disease genes.

Subject headings

NATURVETENSKAP  -- Biologi -- Biokemi och molekylärbiologi (hsv//swe)
NATURAL SCIENCES  -- Biological Sciences -- Biochemistry and Molecular Biology (hsv//eng)

Keyword

complementation
deep mutational scanning
genotype-phenotype
variants of uncertain significance

Publication and Content Type

ref (subject category)
art (subject category)

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