MaveDB v2: a curated community database with over three million variant effects from multiplexed functional assays

AF Rubin, JK Min, NJ Rollins, EY Da, D Esposito… - Biorxiv, 2021 - biorxiv.org
MaveDB, a public, open source repository for multiplexedMaveDB is designed to store and
distribute multiplexed … To enable the discovery, reuse, and interpretation of data in MaveDB, …

MaveRegistry: a collaboration platform for multiplexed assays of variant effect

D Kuang, J Weile, N Kishore, M Nguyen… - …, 2021 - academic.oup.com
Multiplexed assays of variant effect (MAVEs) are capable of experimentally testing all …
evidence to enable more rapid and accurate clinical interpretation of human variation. Because the …

[HTML][HTML] Minimum information and guidelines for reporting a multiplexed assay of variant effect

M Claussnitzer, VN Parikh, AH Wagner, JA Arbesfeld… - Genome biology, 2024 - Springer
… describe the biological and disease relevance of the assay. In addition to releasing scores
and … through MaveDB, an open-source platform to distribute and interpret MAVE data [15, 16]. …

[HTML][HTML] Workshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023

S Allen, A Garrett, L Muffley, S Fayer… - European Journal of …, 2024 - nature.com
… of ClinVar and MaveDB to enact software changes that … of pathogenicity would even be
distributed by contiguous linear … and/or in silico data, which could then be interpreted by the …

MaveQuest: a web resource for planning experimental tests of human variant effects

D Kuang, J Weile, R Li, TW Ouellette, JA Barber… - …, 2020 - academic.oup.com
Multiplexed assays of variant effect (MAVEs) can … have each contributed many variant
interpretations to ClinVar. The … when available, displaying the distribution of single-nucleotide …

Computational Tools and Analyses for Improved Inference of Variant Effects

D Kuang - 2022 - search.proquest.com
Multiplexed assays of variant effect (MAVEs) can generate … measured to the measurements
deposited into the MaveDB. … a human cell line assay and if the interpreter considered this to …

[HTML][HTML] mutscan—a flexible R package for efficient end-to-end analysis of multiplexed assays of variant effect data

C Soneson, AM Bendel, G Diss, MB Stadler - Genome Biology, 2023 - Springer
… on external software libraries beyond … distribution of abundances by sample, and static or
interactive MA plots and volcano plots for easier interpretation of the statistical analysis results. …

Measuring pharmacogene variant function at scale using multiplexed assays

RC Geck, G Boyle, CJ Amorosi… - Annual Review of …, 2022 - annualreviews.org
… Next-generation sequencing (NGS) improves upon platforms … Each variant's distribution
across the bins is converted into … of multiplexed functional data for clinical variant interpretation

7. AI-Based Algorithms for neoplastic metaphase cells boost efficiencies in the cytogenetics laboratory

B Hong, B Fedderson, J Zhao, E Andersen - Cancer Genetics, 2023 - Elsevier
… TheraPy, our open-source drug normalization tool, performs … of multiplex assays of variant
effect (MAVE) data, but the assay… Our effort enables the dissemination of MaveDB data to down…

[HTML][HTML] An Atlas of Variant Effects to understand the genome at nucleotide resolution

DM Fowler, DJ Adams, AL Gloyn, WC Hahn, DS Marks… - Genome Biology, 2023 - Springer
… found in clinical genetic testing are interpreted and also to … Multiplexed variant functional
data can also transform our … been developed, for example the MaveDB repository [45, 46], …