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  1. Article ; Online: Components of genetic associations across 2,138 phenotypes in the UK Biobank highlight adipocyte biology

    Yosuke Tanigawa / Jiehan Li / Johanne M. Justesen / Heiko Horn / Matthew Aguirre / Christopher DeBoever / Chris Chang / Balasubramanian Narasimhan / Kasper Lage / Trevor Hastie / Chong Y. Park / Gill Bejerano / Erik Ingelsson / Manuel A. Rivas

    Nature Communications, Vol 10, Iss 1, Pp 1-

    2019  Volume 14

    Abstract: While many pleiotropic genetic loci have been identified, how they contribute to phenotypes across traits and diseases is unclear. Here, the authors propose decomposition of genetic associations (DeGAs), which uses singular value decomposition, to ... ...

    Abstract While many pleiotropic genetic loci have been identified, how they contribute to phenotypes across traits and diseases is unclear. Here, the authors propose decomposition of genetic associations (DeGAs), which uses singular value decomposition, to characterize the underlying latent structure of genetic associations of 2,138 phenotypes.
    Keywords Science ; Q
    Language English
    Publishing date 2019-09-01T00:00:00Z
    Publisher Nature Publishing Group
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

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    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  2. Article ; Online: Components of genetic associations across 2,138 phenotypes in the UK Biobank highlight adipocyte biology

    Yosuke Tanigawa / Jiehan Li / Johanne M. Justesen / Heiko Horn / Matthew Aguirre / Christopher DeBoever / Chris Chang / Balasubramanian Narasimhan / Kasper Lage / Trevor Hastie / Chong Y. Park / Gill Bejerano / Erik Ingelsson / Manuel A. Rivas

    Nature Communications, Vol 10, Iss 1, Pp 1-

    2019  Volume 14

    Abstract: While many pleiotropic genetic loci have been identified, how they contribute to phenotypes across traits and diseases is unclear. Here, the authors propose decomposition of genetic associations (DeGAs), which uses singular value decomposition, to ... ...

    Abstract While many pleiotropic genetic loci have been identified, how they contribute to phenotypes across traits and diseases is unclear. Here, the authors propose decomposition of genetic associations (DeGAs), which uses singular value decomposition, to characterize the underlying latent structure of genetic associations of 2,138 phenotypes.
    Keywords Science ; Q
    Language English
    Publishing date 2019-09-01T00:00:00Z
    Publisher Nature Portfolio
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  3. Article ; Online: Discovery and quality analysis of a comprehensive set of structural variants and short tandem repeats

    David Jakubosky / Erin N. Smith / Matteo D’Antonio / Marc Jan Bonder / William W. Young Greenwald / Agnieszka D’Antonio-Chronowska / Hiroko Matsui / i2QTL Consortium / Oliver Stegle / Stephen B. Montgomery / Christopher DeBoever / Kelly A. Frazer

    Nature Communications, Vol 11, Iss 1, Pp 1-

    2020  Volume 15

    Abstract: The complexity of structural variation (SV) and short tandem repeats (STRs) makes it necessary to apply different calling and filtering strategies to sequencing datasets. Here, Jakubosky et al. report a comprehensive SV and STR callset from whole-genome ... ...

    Abstract The complexity of structural variation (SV) and short tandem repeats (STRs) makes it necessary to apply different calling and filtering strategies to sequencing datasets. Here, Jakubosky et al. report a comprehensive SV and STR callset from whole-genome sequencing of 477 individuals from iPSCORE and HipSci using five algorithms.
    Keywords Science ; Q
    Language English
    Publishing date 2020-06-01T00:00:00Z
    Publisher Nature Portfolio
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  4. Article ; Online: Discovery and quality analysis of a comprehensive set of structural variants and short tandem repeats

    David Jakubosky / Erin N. Smith / Matteo D’Antonio / Marc Jan Bonder / William W. Young Greenwald / Agnieszka D’Antonio-Chronowska / Hiroko Matsui / i2QTL Consortium / Oliver Stegle / Stephen B. Montgomery / Christopher DeBoever / Kelly A. Frazer

    Nature Communications, Vol 11, Iss 1, Pp 1-

    2020  Volume 15

    Abstract: The complexity of structural variation (SV) and short tandem repeats (STRs) makes it necessary to apply different calling and filtering strategies to sequencing datasets. Here, Jakubosky et al. report a comprehensive SV and STR callset from whole-genome ... ...

    Abstract The complexity of structural variation (SV) and short tandem repeats (STRs) makes it necessary to apply different calling and filtering strategies to sequencing datasets. Here, Jakubosky et al. report a comprehensive SV and STR callset from whole-genome sequencing of 477 individuals from iPSCORE and HipSci using five algorithms.
    Keywords Science ; Q
    Language English
    Publishing date 2020-06-01T00:00:00Z
    Publisher Nature Publishing Group
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  5. Article ; Online: Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study

    Christopher DeBoever / Yosuke Tanigawa / Malene E. Lindholm / Greg McInnes / Adam Lavertu / Erik Ingelsson / Chris Chang / Euan A. Ashley / Carlos D. Bustamante / Mark J. Daly / Manuel A. Rivas

    Nature Communications, Vol 9, Iss 1, Pp 1-

    2018  Volume 10

    Abstract: Protein-truncating variants (PTVs) are predicted to significantly affect a gene’s function and, thus, human traits. Here, DeBoever et al. systematically analyze PTVs in more than 300,000 individuals across 135 phenotypes and identify 27 associations ... ...

    Abstract Protein-truncating variants (PTVs) are predicted to significantly affect a gene’s function and, thus, human traits. Here, DeBoever et al. systematically analyze PTVs in more than 300,000 individuals across 135 phenotypes and identify 27 associations between PTVs and medical conditions.
    Keywords Science ; Q
    Language English
    Publishing date 2018-04-01T00:00:00Z
    Publisher Nature Publishing Group
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  6. Article ; Online: Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study

    Christopher DeBoever / Yosuke Tanigawa / Malene E. Lindholm / Greg McInnes / Adam Lavertu / Erik Ingelsson / Chris Chang / Euan A. Ashley / Carlos D. Bustamante / Mark J. Daly / Manuel A. Rivas

    Nature Communications, Vol 9, Iss 1, Pp 1-

    2018  Volume 10

    Abstract: Protein-truncating variants (PTVs) are predicted to significantly affect a gene’s function and, thus, human traits. Here, DeBoever et al. systematically analyze PTVs in more than 300,000 individuals across 135 phenotypes and identify 27 associations ... ...

    Abstract Protein-truncating variants (PTVs) are predicted to significantly affect a gene’s function and, thus, human traits. Here, DeBoever et al. systematically analyze PTVs in more than 300,000 individuals across 135 phenotypes and identify 27 associations between PTVs and medical conditions.
    Keywords Science ; Q
    Language English
    Publishing date 2018-04-01T00:00:00Z
    Publisher Nature Portfolio
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  7. Article ; Online: Properties of structural variants and short tandem repeats associated with gene expression and complex traits

    David Jakubosky / Matteo D’Antonio / Marc Jan Bonder / Craig Smail / Margaret K. R. Donovan / William W. Young Greenwald / Hiroko Matsui / i2QTL Consortium / Agnieszka D’Antonio-Chronowska / Oliver Stegle / Erin N. Smith / Stephen B. Montgomery / Christopher DeBoever / Kelly A. Frazer

    Nature Communications, Vol 11, Iss 1, Pp 1-

    2020  Volume 15

    Abstract: Genetic variation associated with gene expression changes has mostly been studied in the context of single nucleotide variants. Here, Jakubosky et al. report eQTL analysis of structural variants and short tandem repeats and find properties, such as ... ...

    Abstract Genetic variation associated with gene expression changes has mostly been studied in the context of single nucleotide variants. Here, Jakubosky et al. report eQTL analysis of structural variants and short tandem repeats and find properties, such as length of variation, that affect the association.
    Keywords Science ; Q
    Language English
    Publishing date 2020-06-01T00:00:00Z
    Publisher Nature Publishing Group
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  8. Article ; Online: Properties of structural variants and short tandem repeats associated with gene expression and complex traits

    David Jakubosky / Matteo D’Antonio / Marc Jan Bonder / Craig Smail / Margaret K. R. Donovan / William W. Young Greenwald / Hiroko Matsui / i2QTL Consortium / Agnieszka D’Antonio-Chronowska / Oliver Stegle / Erin N. Smith / Stephen B. Montgomery / Christopher DeBoever / Kelly A. Frazer

    Nature Communications, Vol 11, Iss 1, Pp 1-

    2020  Volume 15

    Abstract: Genetic variation associated with gene expression changes has mostly been studied in the context of single nucleotide variants. Here, Jakubosky et al. report eQTL analysis of structural variants and short tandem repeats and find properties, such as ... ...

    Abstract Genetic variation associated with gene expression changes has mostly been studied in the context of single nucleotide variants. Here, Jakubosky et al. report eQTL analysis of structural variants and short tandem repeats and find properties, such as length of variation, that affect the association.
    Keywords Science ; Q
    Language English
    Publishing date 2020-06-01T00:00:00Z
    Publisher Nature Portfolio
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  9. Article ; Online: Identifying DNase I hypersensitive sites as driver distal regulatory elements in breast cancer

    Matteo D′Antonio / Donate Weghorn / Agnieszka D′Antonio-Chronowska / Florence Coulet / Katrina M. Olson / Christopher DeBoever / Frauke Drees / Angelo Arias / Hakan Alakus / Andrea L. Richardson / Richard B. Schwab / Emma K. Farley / Shamil R. Sunyaev / Kelly A Frazer

    Nature Communications, Vol 8, Iss 1, Pp 1-

    2017  Volume 16

    Abstract: Cancer driver mutations can occur within noncoding genomic sequences. Here, the authors develop a statistical approach to identify candidate noncoding driver mutations in DNase I hypersensitive sites in breast cancer and experimentally demonstrate they ... ...

    Abstract Cancer driver mutations can occur within noncoding genomic sequences. Here, the authors develop a statistical approach to identify candidate noncoding driver mutations in DNase I hypersensitive sites in breast cancer and experimentally demonstrate they are regulatory elements of known cancer genes.
    Keywords Science ; Q
    Language English
    Publishing date 2017-09-01T00:00:00Z
    Publisher Nature Publishing Group
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  10. Article ; Online: Identifying DNase I hypersensitive sites as driver distal regulatory elements in breast cancer

    Matteo D′Antonio / Donate Weghorn / Agnieszka D′Antonio-Chronowska / Florence Coulet / Katrina M. Olson / Christopher DeBoever / Frauke Drees / Angelo Arias / Hakan Alakus / Andrea L. Richardson / Richard B. Schwab / Emma K. Farley / Shamil R. Sunyaev / Kelly A Frazer

    Nature Communications, Vol 8, Iss 1, Pp 1-

    2017  Volume 16

    Abstract: Cancer driver mutations can occur within noncoding genomic sequences. Here, the authors develop a statistical approach to identify candidate noncoding driver mutations in DNase I hypersensitive sites in breast cancer and experimentally demonstrate they ... ...

    Abstract Cancer driver mutations can occur within noncoding genomic sequences. Here, the authors develop a statistical approach to identify candidate noncoding driver mutations in DNase I hypersensitive sites in breast cancer and experimentally demonstrate they are regulatory elements of known cancer genes.
    Keywords Science ; Q
    Language English
    Publishing date 2017-09-01T00:00:00Z
    Publisher Nature Portfolio
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

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