Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mapping MAVE data for use in human genomics applications.

Genome biology - 25 Jun 2025

Arbesfeld Jeremy A, Da Estelle Y, Stevenson James S, Kuzma Kori, Paul Anika, Farris Tierra, Capodanno Benjamin J, Grindstaff Sally B, Riehle Kevin, Saraiva-Agostinho Nuno, Safer Jordan F, Casper Jonathan, Haeussler Maximilian, Milosavljevic Aleksandar, Foreman Julia, Firth Helen V, Hunt Sarah E, Iqbal Sumaiya, Cline Melissa S, Rubin Alan F, Wagner Alex H

Abstract excerpt

BACKGROUND: Experimental data from functional assays have a critical role in interpreting the impact of genetic variants. Assay data must be unambiguously mapped to a reference genome to make it accessible, but it is often reported relative to assay-specific sequences, complicating downstream use and integration of variant data across resources. To make multiplexed assays of variant effect (MAVE) data more...

Read the complete abstract on PubMed

Topics

Humans
Genomics
Genome, Human
Databases, Genetic
Genetic Variation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Chromosome Mapping

Source

Open in PubMed Open full text

Identifiers

PMID: 40563119
DOI: 10.1186/s13059-025-03647-x
PMCID: PMC12188674

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mapping MAVE data for use in human genomics applications.PMID 40563119Read ↗

Mapping MAVE data for use in human genomics applicationsSemantic proximity Read ↗

MaveQuest: a web resource for planning experimental tests of human variant effects.Semantic proximity Read ↗

MaveRegistry: a collaboration platform for multiplexed assays of variant effectSemantic proximity Read ↗

MaveMD: A functional data resource for genomic medicineSemantic proximity Read ↗

DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research.Semantic proximity Read ↗

DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and researchSemantic proximity Read ↗

MaveDB 2024: a curated community database with over seven million variant effects from multiplexed functional assays.Semantic proximity Read ↗

Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project.Semantic proximity Read ↗

An open-source platform to distribute and interpret data from multiplexed assays of variant effectSemantic proximity Read ↗

MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.Semantic proximity Read ↗

VariantMatcher: Phenotypic and Genomic Data Sharing to Facilitate Variant Classification and Disease Gene Discovery.Semantic proximity Read ↗

MaveDB: an open-source platform to distribute and interpret data from multiplexed assays of variant effect.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.