MuSA: a Nextflow pipeline for deep, reproducible annotation and clinical ranking of genomic variants.

doi:10.1186/s12859-026-06513-0

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

Community

Back to search

Article

MuSA: a Nextflow pipeline for deep, reproducible annotation and clinical ranking of genomic variants.

BMC bioinformatics - 16 Jun 2026

Scognamiglio D, Bonetti E, Moroni A, Sangiorgi L, Pedrini E

Abstract excerpt

BACKGROUND: Accurate clinical interpretation of genetic variants requires integration of functional predictions, evolutionary constraint, population allele frequencies, and clinical evidence from heterogeneous resources. Conventional workflows based on standalone tools such as ensembl variant effect predictor (VEP) and ANNOVAR require complex manual configuration of plugins and databases, generate verbose...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Computational Biology
Share to Databases, Genetic
Share to MAF gene
Share to Genetic Variation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genomics

Share to Molecular Sequence Annotation

Share to Reproducibility of Results

Share to Software

Source

Open in PubMed Open full text

Identifiers

PMID: 42304195
DOI: 10.1186/s12859-026-06513-0
PMCID: PMC13508343

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.