AVE mentioned or cited in Scientific Publications:

• Using multiplexed functional data to reduce variant classification inequities in underrepresented populations Dawood et al , Genome Medicine, Dec 2024

• Executive summary from the Clinical Atlas of Variant Effects meeting CLAVE meeting attendees, Zenodo, Oct 2024

• Variation to biology: optimizing functional analysis of cancer risk variants Nelson et al, Journal of the National Cancer Institute, July 2024

• High-throughput assays to assess variant effects on disease Ma et al, Dis Model Mech, June 2024

• Analyzing the functional effects of DNA variants with gene editing Cooper et al, Cell Reports Methods, May 2024

• Variant effect predictor correlation with functional assays is reflective of clinical classification performance Livesey and Marsh, bioRxiv Preprint, May 2024

• Guidelines for Releasing a Variant Effect Predictor Livesey et al, arXiv, April 2024

• Minimum information and guidelines for reporting a Multiplexed Assay of Variant Effect Claussnitzer et al, Genome Biology, April 2024

• Workshop report: the clinical application of data from multiplex assays of variant effect (MAVE) - Allen et al EJHG, March 2024

• Ensembl 2024 - Harrison et al, Nucleic Acids Research, Jan 2024

• Will variants of uncertain significance still exist in 2030? Fowler and Rehm, AJHG Perspective, Dec 2023

• Overview of modern genomic tools for diagnosis and precision therapy of childhood solid cancers Mardis Current Opinion in Pediatrics, Nov 2023

• Predicting pathogenic protein variants Marsh and Teichmann Science, Sept 2023

• Article collection in Genome Biology: Towards an atlas of variant effects Genome Biology, Jul 2023

• An Atlas of Variant Effects to understand the genome at nucleotide resolution Fowler et al Genome Biology Jul 2023

• SUNi mutagenesis: Scalable and uniform nicking for efficient generation of variant libraries Mighell et al PlosOne, Jul 2023

• Mapping MAVE data for use in human genomics applications Arbesfeld et al BioRxiv Preprint, Jun 2023

• Correspondence between functional scores from deep mutational scans and predicted effects on protein stability Gerasimavicius, Livesey and Marsh, May 2023

• First-tier next-generation sequencing for newborn screening: An important role for biochemical second-tier testing Stenton et al Genetics in Medicine Open Brief Report, May 2023

• DIMPLE: deep insertion, deletion, and missense mutation libraries for exploring protein variation in evolution, disease, and biology Macdonald et al Genome Biology Feb 2023

• Unified views on variant impact across many diseases Kumar and Gerstein - Opinion piece, Trends in Genomics, Feb 2023

• Deep mutational scanning: A versatile tool in systematically mapping genotypes to phenotypes Huijin Wei and Xianghua Li, Jan 2023

• Updated benchmarking of variant effect predictors using deep mutational scanning Benjamin J. Livesey and Joseph A. Marsh - https://doi.org/10.1101/2022.11.19.517196 BioRxiv Preprint, Nov 2022

• Scalable Functional Assays for the Interpretation of Human Genetic Variation Annual Review of Genetics Tabet et al, Sept 2022

• Leveraging massively parallel reporter assays for evolutionary questions Gallego Romero and Lea - arXiv , Apr 2022

• Redefining the hypotheses driving Parkinson’s diseases research Farrow et al. - Nature, Apr 2022

• Democratizing the mapping of gene mutations to protein biophysics Debora S. Marks & Stephen W. Michnick - Nature News and Views, Apr 2022

• Challenge accepted: uncovering the role of rare genetic variants in Alzheimer’s disease Khani et al , Jan 2022

• MaveDB v2: a curated community database with over three million variant effects from multiplexed functional assays Rubin et al - BioRxiv Preprint, Jan 2022

• MaveRegistry: a collaboration platform for multiplexed assays of variant effect Da Kuang et al- Bioinformatics, Oct 2021

• Embeddings from protein language models predict conservation

  and variant effects Marquet et al -Human Genetics, Oct 2021

• From variant to function in human disease genetics Lappalainen & Macarthur - Science Special Issue Review, Sept 2021

• Centers for Mendelian Genomics: A decade of facilitating gene discovery Baxter et al - Medrxiv Aug 2021

• Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes Seaby, Rehm, and O’Donnell-Luria - Frontiers in Genetics, Jun 2021

• Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN Fayer et al - AJHG, Dec 2021