MaveDB v2: a curated community database with over three million variant effects from multiplexed functional assays
… MaveDB, a public, open source repository for multiplexed … MaveDB is designed to store and
distribute multiplexed … To enable the discovery, reuse, and interpretation of data in MaveDB, …
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 …
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]. …
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
… 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 …
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
… Multiplexed assays of variant effect (MAVEs) can … have each contributed many variant
interpretations to ClinVar. The … when available, displaying the distribution of single-nucleotide …
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 …
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
… 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. …
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…
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…
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
… 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], …
data can also transform our … been developed, for example the MaveDB repository [45, 46], …