Variant Effect Predictor - Genetic Mutations

Relevant Publications

Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions.

Issue Release: 2024

Guidelines for releasing a variant effect predictor.

Issue Release: 2024

Forecasting the spread of COVID-19 based on policy, vaccination, and Omicron data.

Issue Release: 2024

Late diagnosis of Marfan syndrome is associated with unplanned aortic surgery and cardiovascular death.

Issue Release: 2024

Exploring the Genotype-Phenotype Correlations in a Child with Inherited Seizure and Thrombocytopenia by Digenic Network Analysis.

Issue Release: 2024

Olaparib Combined with Abiraterone versus Olaparib Monotherapy for Patients with Metastatic Castration-resistant Prostate Cancer Progressing after Abiraterone and Harboring DNA Damage Repair Deficiency: A Multicenter Real-world Study.

Issue Release: 2024

DrivR-Base: A Feature Extraction Toolkit For Variant Effect Prediction Model Construction.

Issue Release: 2024

Thrombocytopenia after sutureless and standard stented aortic valve replacement: a retrospective analysis of risk factors, clinical course, and early outcome.

Issue Release: 2024

Lung function at three months after hospitalization due to COVID‑19 pneumonia: Comparison of alpha, delta and omicron variant predominance periods.

Issue Release: 2024

Innovating Thiopurine Therapeutic Drug Monitoring: A Systematic Review and Meta-Analysis on DNA-Thioguanine Nucleotides (DNA-TG) as an Inclusive Biomarker in Thiopurine Therapy.

Issue Release: 2024

PathVar: A Customisable NGS Variant Calling Algorithm Implicates Novel Candidate Genes and Pathways in Hemiplegic Migraine.

Issue Release: 2024

Novel Loci for Triglyceride / High-density Lipoprotein Cholesterol Ratio Longitudinal Change among Subjects without Type 2 Diabetes.

Issue Release: 2024

Efficacy of preexposure prophylaxis with monoclonal-antibody tixagevimab-cilgavimab against emerging SARS-CoV-2 resistant variants in patients with chronic lymphocytic leukemia.

Issue Release: 2024

MVAR: A Mouse Variation Registry.

Issue Release: 2024

Novel genetic variant in hereditary spastic paraparesis.

Issue Release: 2024

Deciphering the Impact of Rare Missense Variants in EGFR-TKI-Resistant Non-Small-Cell Lung Cancer through Whole Exome Sequencing: A Computational Approach.

Issue Release: 2024

Default mode network tau predicts future clinical decline in atypical early Alzheimer\'s disease.

Issue Release: 2024

Shared genetic factors and causal association between chronic hepatitis C infection and diffuse large B cell lymphoma.

Issue Release: 2024

Population-scale variability of the human UDP-glycosyltransferase gene family.

Issue Release: 2024

Mapping MAVE data for use in human genomics applications.

Issue Release: 2024

How Do Mutations in Non-Coding Regions Affect Gene Expression?

What are inherited genetic mutations?

Can Genetic Mutations from UV Radiation Be Prevented?

How Does Hydroxyurea Help in Sickle Cell Disease?

How Does Oxford Nanopore Sequencing Detect Genetic Mutations?

What are the Common Hemoglobin Variants Detected?

Is All Evolution Neutral?

How are Induced Mutations Detected and Analyzed?

How is PCR Used to Detect Genetic Mutations?

How is Data Collected in Populace Genomics?

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