Génépy
Selected indexed studies
- Predicting Adverse Events to Thiopurines in IBD: Are We a Step Closer? (Inflamm Bowel Dis, 2024) [PMID:39011862]
- Prediction of Crohn's Disease Stricturing Phenotype Using a NOD2-derived Genomic Biomarker. (Inflamm Bowel Dis, 2023) [PMID:36161322]
- A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project. (Genet Med, 2024) [PMID:38245859]
_Worker-drafted node — pending editorial review._
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Sources
- Predicting Adverse Events to Thiopurines in IBD: Are We a Step Closer? (2024) pubmed
- Prediction of Crohn's Disease Stricturing Phenotype Using a NOD2-derived Genomic Biomarker. (2023) pubmed
- A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project. (2024) pubmed
- Expression profile of the matricellular protein periostin in paediatric inflammatory bowel disease. (2021) pubmed
- A gene pathogenicity tool 'GenePy' identifies missed biallelic diagnoses in the 100,000 Genomes Project. (2023) pubmed
- Supervised Machine Learning Classifies Inflammatory Bowel Disease Patients by Subtype Using Whole Exome Sequencing Data. (2023) pubmed
- A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project). (2023) pubmed
- Identification of genetic biomarkers of blood cholesterol levels using whole gene pathogenicity modelling. (2025) pubmed
- Deleterious Genetic Variation Across the NOD Signaling Pathway Is Associated With Reduced NFKB Signaling Transcription and Upregulation of Alternative Inflammatory Transcripts in Pediatric Inflammatory Bowel Disease. (2022) pubmed
- GenePy - a score for estimating gene pathogenicity in individuals using next-generation sequencing data. (2019) pubmed