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Genome Biology
|
January 22, 2025
MaveDB 2024: a curated community database with over seven million variant effects from multiplexed functional assays
Alan F Rubin, Jeremy Stone, Aisha Haley Bianchi, et al.
Medrxiv : the Preprint Server for Health Sciences
|
June 4, 2026
Phenotype-Specific Recalibration of MAVE Data Enables Repurposing of <i>BAP1</i> Functional Assays for Küry-Isidor Syndrome
Pankhuri Gupta, Elsa V Balton, Mavika Tejura, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
February 26, 2020
Massively parallel variant characterization identifies <i>NUDT15</i> alleles associated with thiopurine toxicity
Chase C Suiter, Takaya Moriyama, Kenneth A Matreyek, et al.
Cell
|
March 25, 2017
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research
Teri A Manolio, Douglas M Fowler, Lea M Starita, et al.
Science (New York, N.Y.)
|
October 30, 2025
The functional landscape of coding variation in the familial hypercholesterolemia gene <i>LDLR</i>
Daniel R Tabet, Atina G Coté, Megan C Lancaster, et al.
Nucleic Acids Research
|
December 8, 2025
The IGVF catalog-from genetic variation to function
Daofeng Li, Shane Liu, Pedro R Assis, et al.
Biorxiv : the Preprint Server for Biology
|
February 23, 2026
A scalable approach to resolving variants of uncertain significance
Malvika Tejura, Yile Chen, Abbye E McEwen, et al.
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Search research articles
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Showing results (121-130 of 127) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 127 results.
Genome Biology
|
January 22, 2025
MaveDB 2024: a curated community database with over seven million variant effects from multiplexed functional assays
Alan F Rubin, Jeremy Stone, Aisha Haley Bianchi, et al.
Medrxiv : the Preprint Server for Health Sciences
|
June 4, 2026
Phenotype-Specific Recalibration of MAVE Data Enables Repurposing of <i>BAP1</i> Functional Assays for Küry-Isidor Syndrome
Pankhuri Gupta, Elsa V Balton, Mavika Tejura, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
February 26, 2020
Massively parallel variant characterization identifies <i>NUDT15</i> alleles associated with thiopurine toxicity
Chase C Suiter, Takaya Moriyama, Kenneth A Matreyek, et al.
Cell
|
March 25, 2017
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research
Teri A Manolio, Douglas M Fowler, Lea M Starita, et al.
Science (New York, N.Y.)
|
October 30, 2025
The functional landscape of coding variation in the familial hypercholesterolemia gene <i>LDLR</i>
Daniel R Tabet, Atina G Coté, Megan C Lancaster, et al.
Nucleic Acids Research
|
December 8, 2025
The IGVF catalog-from genetic variation to function
Daofeng Li, Shane Liu, Pedro R Assis, et al.
Biorxiv : the Preprint Server for Biology
|
February 23, 2026
A scalable approach to resolving variants of uncertain significance
Malvika Tejura, Yile Chen, Abbye E McEwen, et al.
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of 13