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Minimum information and guidelines for reporting a Multiplexed Assay of Variant Effect

Multiplexed Assays of Variant Effect (MAVEs) have emerged as a powerful approach for interrogating thousands of genetic variants in a single experiment. The flexibility and widespread adoption of these techniques across diverse disciplines has led to a heterogeneous mix of data formats and descripti...

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Autores principales: Claussnitzer, Melina, Parikh, Victoria N., Wagner, Alex H., Arbesfeld, Jeremy A., Bult, Carol J., Firth, Helen V., Muffley, Lara A., Nguyen Ba, Alex N., Riehle, Kevin, Roth, Frederick P., Tabet, Daniel, Bolognesi, Benedetta, Glazer, Andrew M., Rubin, Alan F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cornell University 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10327236/
https://www.ncbi.nlm.nih.gov/pubmed/37426450
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author Claussnitzer, Melina
Parikh, Victoria N.
Wagner, Alex H.
Arbesfeld, Jeremy A.
Bult, Carol J.
Firth, Helen V.
Muffley, Lara A.
Nguyen Ba, Alex N.
Riehle, Kevin
Roth, Frederick P.
Tabet, Daniel
Bolognesi, Benedetta
Glazer, Andrew M.
Rubin, Alan F.
author_facet Claussnitzer, Melina
Parikh, Victoria N.
Wagner, Alex H.
Arbesfeld, Jeremy A.
Bult, Carol J.
Firth, Helen V.
Muffley, Lara A.
Nguyen Ba, Alex N.
Riehle, Kevin
Roth, Frederick P.
Tabet, Daniel
Bolognesi, Benedetta
Glazer, Andrew M.
Rubin, Alan F.
author_sort Claussnitzer, Melina
collection PubMed
description Multiplexed Assays of Variant Effect (MAVEs) have emerged as a powerful approach for interrogating thousands of genetic variants in a single experiment. The flexibility and widespread adoption of these techniques across diverse disciplines has led to a heterogeneous mix of data formats and descriptions, which complicates the downstream use of the resulting datasets. To address these issues and promote reproducibility and reuse of MAVE data, we define a set of minimum information standards for MAVE data and metadata and outline a controlled vocabulary aligned with established biomedical ontologies for describing these experimental designs.
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spelling pubmed-103272362023-07-08 Minimum information and guidelines for reporting a Multiplexed Assay of Variant Effect Claussnitzer, Melina Parikh, Victoria N. Wagner, Alex H. Arbesfeld, Jeremy A. Bult, Carol J. Firth, Helen V. Muffley, Lara A. Nguyen Ba, Alex N. Riehle, Kevin Roth, Frederick P. Tabet, Daniel Bolognesi, Benedetta Glazer, Andrew M. Rubin, Alan F. ArXiv Article Multiplexed Assays of Variant Effect (MAVEs) have emerged as a powerful approach for interrogating thousands of genetic variants in a single experiment. The flexibility and widespread adoption of these techniques across diverse disciplines has led to a heterogeneous mix of data formats and descriptions, which complicates the downstream use of the resulting datasets. To address these issues and promote reproducibility and reuse of MAVE data, we define a set of minimum information standards for MAVE data and metadata and outline a controlled vocabulary aligned with established biomedical ontologies for describing these experimental designs. Cornell University 2023-06-26 /pmc/articles/PMC10327236/ /pubmed/37426450 Text en https://creativecommons.org/licenses/by/4.0/This work is licensed under a Creative Commons Attribution 4.0 International License (https://creativecommons.org/licenses/by/4.0/) , which allows reusers to distribute, remix, adapt, and build upon the material in any medium or format, so long as attribution is given to the creator. The license allows for commercial use.
spellingShingle Article
Claussnitzer, Melina
Parikh, Victoria N.
Wagner, Alex H.
Arbesfeld, Jeremy A.
Bult, Carol J.
Firth, Helen V.
Muffley, Lara A.
Nguyen Ba, Alex N.
Riehle, Kevin
Roth, Frederick P.
Tabet, Daniel
Bolognesi, Benedetta
Glazer, Andrew M.
Rubin, Alan F.
Minimum information and guidelines for reporting a Multiplexed Assay of Variant Effect
title Minimum information and guidelines for reporting a Multiplexed Assay of Variant Effect
title_full Minimum information and guidelines for reporting a Multiplexed Assay of Variant Effect
title_fullStr Minimum information and guidelines for reporting a Multiplexed Assay of Variant Effect
title_full_unstemmed Minimum information and guidelines for reporting a Multiplexed Assay of Variant Effect
title_short Minimum information and guidelines for reporting a Multiplexed Assay of Variant Effect
title_sort minimum information and guidelines for reporting a multiplexed assay of variant effect
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10327236/
https://www.ncbi.nlm.nih.gov/pubmed/37426450
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