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

Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants.

American journal of human genetics - 2 Dec 2021

Sevim Bayrak Cigdem, Stein David, Jain Aayushee, Chaudhary Kumardeep, Nadkarni Girish N, Van Vleck Tielman T, Puel Anne, Boisson-Dupuis Stephanie, Okada Satoshi, Stenson Peter D, Cooper David N, Schlessinger Avner, Itan Yuval

Abstract excerpt

Identifying whether a given genetic mutation results in a gene product with increased (gain-of-function; GOF) or diminished (loss-of-function; LOF) activity is an important step toward understanding disease mechanisms because they may result in markedly different clinical phenotypes. Here, we generated an extensive database of documented germline GOF and LOF pathogenic variants by employing natural language...

Read the complete abstract on PubMed

Topics

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

Share to Databases, Genetic
Share to Gain of Function Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Genome, Human

Share to Germ-Line Mutation

Share to Loss of Function Mutation

Share to Machine Learning

Share to Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 34762822
DOI: 10.1016/j.ajhg.2021.10.007
PMCID: PMC8715146

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants.PMID 34762822Read ↗

Identification of Discriminative Gene-level and Protein-level Features Associated with Gain-of-Function and Loss-of-Function MutationsSemantic proximity Read ↗

GoFCards: an integrated database and analytic platform for gain of function variants in humans.Semantic proximity Read ↗

Prevalence of loss-of-function, gain-of-function and dominant-negative mechanisms across genetic disease phenotypesSemantic proximity Read ↗

Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature setSemantic proximity Read ↗

GLOF: A large-scale expert-curated benchmark dataset of gain-of-function and loss-of-function missense variantsSemantic proximity Read ↗

Identification of pathogenic variant enriched regions across genes and gene families.Semantic proximity Read ↗

Human Proteome-wide Mechanistic Interpretation of Missense Variants through Protein Feature Enrichment ScoreSemantic proximity Read ↗

A systematic survey of loss-of-function variants in human protein-coding genes.Semantic proximity Read ↗

Identification of pathogenic variant enriched regions across genes and gene familiesSemantic proximity Read ↗

A deep catalog of protein-coding variation in 985,830 individualsSemantic proximity Read ↗

Proteome-scale prediction of molecular mechanisms underlying dominant genetic diseasesSemantic proximity Read ↗

Unique signatures of highly constrained genes across publicly available genomic databases.Semantic proximity Read ↗

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