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

Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations.

Genetic testing and molecular biomarkers - 1 Aug 2010

Flanagan Sarah E, Patch Ann-Marie, Ellard Sian

Abstract excerpt

CONTEXT: The interpretation of novel missense variants is a challenge with increasing numbers of such variants being identified and a responsibility to report the findings in the context of all available scientific evidence. Various in silico bioinformatic tools have been developed that predict the likely pathogenicity of missense variants; however, their utility within the diagnostic setting requires further...

Read the complete abstract on PubMed

Topics

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

Share to ATP-Binding Cassette Transporters
Share to Genetic Diseases, Inborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Germinal Center Kinases

Share to Molecular Diagnostic Techniques

Share to Potassium Channels, Inwardly Rectifying

Share to Receptors, Drug

Share to Structure-Activity Relationship

Share to Sulfonylurea Receptors

Source

Identifiers

PMID: 20642364
DOI: 10.1089/gtmb.2010.0036

Genes

ABCC8
GCK
KCNJ11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations.PMID 20642364Read ↗

In silico analysis of BRCA1 and BRCA2 missense variants and the relevance in molecular genetic testing.Semantic proximity Read ↗

Predicting deleterious amino acid substitutions.Semantic proximity Read ↗

A bioinformatics approach for the phenotype prediction of nonsynonymous single nucleotide polymorphisms in human cytochromes P450.Semantic proximity Read ↗

Non-neutral nonsynonymous single nucleotide polymorphisms in human ABC transporters: the first comparison of six prediction methods.Semantic proximity Read ↗

REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function VariantsSemantic proximity Read ↗

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm.Semantic proximity Read ↗

REVEL is better at predicting pathogenicity of loss-of-function than gain-of-function variantsSemantic proximity Read ↗

Performance of mutation pathogenicity prediction methods on missense variants.Semantic proximity Read ↗

From Mutations to Disease: Computational Analysis and Interpretation of GPCR-Associated PathogenicitySemantic proximity Read ↗

The proportion of mutations predicted to have a deleterious effect differs between gain and loss of function genes in neurodegenerative disease.Semantic proximity Read ↗

Phenotype prediction of deleterious nonsynonymous single nucleotide polymorphisms in human alcohol metabolism-related genes: a bioinformatics study.Semantic proximity Read ↗

A comparative medical genomics approach may facilitate the interpretation of rare missense variationSemantic proximity Read ↗

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