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Nature Reviews. Genetics
|
July 21, 2025
Multiplexed assays of variant effect for clinical variant interpretation
Abbye E McEwen, Malvika Tejura, Shawn Fayer, et al.
American Journal of Human Genetics
|
August 22, 2024
Calibration of variant effect predictors on genome-wide data masks heterogeneous performance across genes
Malvika Tejura, Shawn Fayer, Abbye E McEwen, et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society
|
April 20, 2016
Robertsonian translocations modify genomic distribution of γH2AFX and H3.3 in mouse germ cells
Shawn Fayer, Qi Yu, Joongbaek Kim, et al.
BMC Bioinformatics
|
September 6, 2024
Assigning credit where it is due: an information content score to capture the clinical value of multiplexed assays of variant effect
John Michael O Ranola, Carolyn Horton, Tina Pesaran, et al.
Plos One
|
September 26, 2013
Dynamics of response to asynapsis and meiotic silencing in spermatocytes from Robertsonian translocation carriers
Anna K Naumova, Shawn Fayer, Jacky Leung, et al.
Biorxiv : the Preprint Server for Biology
|
October 31, 2023
Assigning credit where it's due: An information content score to capture the clinical value of Multiplexed Assays of Variant Effect
John Michael O Ranola, Carrie Horton, Tina Pesaran, et al.
Biorxiv : the Preprint Server for Biology
|
July 14, 2025
Gene-based calibration of high-throughput functional assays for clinical variant classification
Daniel Zeiberg, Malvika Tejura, Abbye E McEwen, et al.
Arxiv
|
April 8, 2025
Combining multiplexed functional data to improve variant classification
Jeffrey D Calhoun, Moez Dawood, Charlie F Rowlands, et al.
European Journal of Human Genetics : EJHG
|
March 3, 2024
Workshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023
Sophie Allen, Alice Garrett, Lara Muffley, et al.
American Journal of Human Genetics
|
November 18, 2021
Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN
Shawn Fayer, Carrie Horton, Jennifer N Dines, et al.
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of 3
Search research articles
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Showing results (1-10 of 30) with videos related to
Sort By:
Page
of 3
Nature Reviews. Genetics
|
July 21, 2025
Multiplexed assays of variant effect for clinical variant interpretation
Abbye E McEwen, Malvika Tejura, Shawn Fayer, et al.
American Journal of Human Genetics
|
August 22, 2024
Calibration of variant effect predictors on genome-wide data masks heterogeneous performance across genes
Malvika Tejura, Shawn Fayer, Abbye E McEwen, et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society
|
April 20, 2016
Robertsonian translocations modify genomic distribution of γH2AFX and H3.3 in mouse germ cells
Shawn Fayer, Qi Yu, Joongbaek Kim, et al.
BMC Bioinformatics
|
September 6, 2024
Assigning credit where it is due: an information content score to capture the clinical value of multiplexed assays of variant effect
John Michael O Ranola, Carolyn Horton, Tina Pesaran, et al.
Plos One
|
September 26, 2013
Dynamics of response to asynapsis and meiotic silencing in spermatocytes from Robertsonian translocation carriers
Anna K Naumova, Shawn Fayer, Jacky Leung, et al.
Biorxiv : the Preprint Server for Biology
|
October 31, 2023
Assigning credit where it's due: An information content score to capture the clinical value of Multiplexed Assays of Variant Effect
John Michael O Ranola, Carrie Horton, Tina Pesaran, et al.
Biorxiv : the Preprint Server for Biology
|
July 14, 2025
Gene-based calibration of high-throughput functional assays for clinical variant classification
Daniel Zeiberg, Malvika Tejura, Abbye E McEwen, et al.
Arxiv
|
April 8, 2025
Combining multiplexed functional data to improve variant classification
Jeffrey D Calhoun, Moez Dawood, Charlie F Rowlands, et al.
European Journal of Human Genetics : EJHG
|
March 3, 2024
Workshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023
Sophie Allen, Alice Garrett, Lara Muffley, et al.
American Journal of Human Genetics
|
November 18, 2021
Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN
Shawn Fayer, Carrie Horton, Jennifer N Dines, et al.
Page
of 3