bioRxiv (Cold Spring Harbor Laboratory) · 2021 · 28 citations · 61 references
Life SciencesBioinformaticsGeneticsGenomic Data AnalysisGenomic InformaticsGenomicsFunctional GenomicsGenomic DatabasesGenotyping PlatformsNext-generation SequencingVariant AnalysisVariant DetectionData Submission PipelinesFunctional AssaysMultiplexed AssaysSingle-nucleotide Variant DetectionVariant Databases
Abstract A central problem in genomics is understanding the effect of individual DNA variants. Multiplexed Assays of Variant Effect (MAVEs) can help address this challenge by measuring all possible single nucleotide variant effects in a gene or regulatory sequence simultaneously. Here we describe MaveDB v2, which has become the database of record for MAVEs. MaveDB now contains a large fraction of published studies, comprising over two hundred datasets and three million variant effect measurements. We created tools and APIs to streamline data submission and access, transforming MaveDB into a hub for the analysis and dissemination of these impactful datasets.
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