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

Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation.

Genome medicine - 20 Dec 2019

Gelman Hannah, Dines Jennifer N, Berg Jonathan, Berger Alice H, Brnich Sarah, Hisama Fuki M, James Richard G, Rubin Alan F, Shendure Jay, Shirts Brian, Fowler Douglas M, Starita Lea M

Abstract excerpt

Variants of uncertain significance represent a massive challenge to medical genetics. Multiplexed functional assays, in which the functional effects of thousands of genomic variants are assessed simultaneously, are increasingly generating data that can be used as additional evidence for or against variant pathogenicity. Such assays have the potential to resolve variants of uncertain significance, thereby...

Read the complete abstract on PubMed

Topics

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

Share to Gene Library
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Guidelines as Topic

Share to Precision Medicine

Share to Quality Control

Share to Sequence Analysis, DNA

Share to Societies, Medical

Source

Open in PubMed Open full text

Identifiers

PMID: 31862013
DOI: 10.1186/s13073-019-0698-7
PMCID: PMC6925490

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation.PMID 31862013Read ↗

Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN.Semantic proximity Read ↗

Variant Interpretation: Functional Assays to the Rescue.Semantic proximity Read ↗

Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.Semantic proximity Read ↗

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation frameworkSemantic proximity Read ↗

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.Semantic proximity Read ↗

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert PanelsSemantic proximity Read ↗

Consultation informs strategies for improving the use of functional evidence in variant classification.Semantic proximity Read ↗

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.Semantic proximity Read ↗

A scalable approach to resolving variants of uncertain significanceSemantic proximity Read ↗

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.Semantic proximity Read ↗

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

High-Throughput Assays to Assess the Functional Impact of Genetic Variants: A Road Towards Genomic-Driven Medicine.Semantic proximity Read ↗

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