ArticleComputational and structural biotechnology journal2024
Genetic variant classification by predicted protein structure: A case study on IRF6.
Article in Computational and structural biotechnology journal, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 8 citations in OpenAlex.
- PubMind: literature-based genetic variant extraction and functional annotation using large language models.Nature communications · 2026Article
- Whole exome sequencing uncovers genetic syndromes and putative candidate genes underlying orofacial clefts presenting with limb abnormalities in a Sub-Saharan African cohort.BMC medical genomics · 2026Article
- ROWVA: A Structure-Based Metric for Predicting the Pathogenicity of Protein Variants Using Alphafold2.Cancer science · 2026Article
- VUStruct: A compute pipeline for high throughput and personalized structural biology.PLoS computational biology · 2026Article
- High-throughput biochemical phenotyping of SHP2 variants reveals the molecular basis of diseases and allosteric drug inhibition.bioRxiv : the preprint server for biology · 2026Article
- Distinct IRF6 dysfunction mechanisms in syndromic orofacial clefts: Computational evidence for allosteric versus direct disruption.Computational and structural biotechnology journal · 2025Article
- Making sense of missense: challenges and opportunities in variant pathogenicity prediction.Disease models & mechanisms · 2024Article
- Assessment of ability of AlphaMissense to identify variants affecting susceptibility to common disease.European journal of human genetics : EJHG · 2024Article
- Functional analysis of ESRP1/2 gene variants and CTNND1 isoforms in orofacial cleft pathogenesis.Communications biology · 2024Article
- Functional analysis ofbioRxiv : the preprint server for biology · 2024Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Next-generation genome sequencing has revolutionized genetic testing, identifying numerous rare disease-associated gene variants. However, to impute pathogenicity, computational approaches remain inadequate and functional testing of gene variant is required to provide the highest level of evidence. The emergence of AlphaFold2 has transformed the field of protein structure determination, and here we outline a strategy that leverages predicted protein structure to enhance genetic variant classification. We used the gene
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.