Terkko Navigator / Vihinen, M(auno)

Functional effects of protein variants.

Systematics for types and effects of RNA variations.

Poikilosis - pervasive biological variation.

Strategy for Disease Diagnosis, Progression Prediction, Risk Group Stratification and Treatment-Case of COVID-19.

Identify New Genetic Variants on Chromosome 6 Associated with Mortality after Heart Transplantation.

Guidelines for systematic reporting of sequence alignments.

Problems in variation interpretation guidelines and in their implementation in computational tools.

Variation benchmark datasets: update, criteria, quality and applications.

ProTstab - predictor for cellular protein stability.

Checklist For Gene/Disease-Specific Variation Database Curators To Enable Ethical Data Management.

Benchmarking subcellular localization and variant tolerance predictors on membrane proteins.

Assessing Computational Predictions of the Phenotypic Effect of Cystathionine-beta-Synthase Variants.

FGF family members differentially regulate maturation and proliferation of stem cell-derived astrocytes.

How good are pathogenicity predictors in detecting benign variants?

Systematics for types and effects of DNA variations.

Representativeness of variation benchmark datasets.

Pan-cancer analysis of neoepitopes.

Simulation of the Dynamics of Primary Immunodeficiencies in B Cells.

NDDVD: an integrated and manually curated Neurodegenerative Diseases Variation Database.

PON-tstab: Protein Variant Stability Predictor. Importance of Training Data Quality.

Mu transpososome activity-profiling yields hyperactive MuA variants for highly efficient genetic and genome engineering.

PON-SC - program for identifying steric clashes caused by amino acid substitutions.

Large differences in proportions of harmful and benign amino acid substitutions between proteins and diseases.

Working towards precision medicine: predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges.

Simulation of the dynamics of primary immunodeficiencies in CD4+ T-cells.

Large differences in proportions of harmful and benign amino acid substitutions between proteins and diseases.

Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI.

PON-P and PON-P2 predictor performance in CAGI challenges: Lessons learned.

One Gene, Several Diseases: The Characteristics of Pleiotropic Proteins.

Predicting Severity of Disease-Causing Variants.

Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies.

How to Define Pathogenicity, Health and Disease?

Establishment of an international database for genetic variants in esophageal cancer.

Both Generic and Protein-Specific Tolerance Predictors Are Needed.

Establishment of an international database for genetic variants in esophageal cancer.

Substitution scanning identifies a novel, catalytically active ibrutinib-resistant BTK cysteine 481 to threonine (C481T) variant.

PON-Sol: prediction of effects of amino acid substitutions on protein solubility.

Variation Interpretation Predictors: Principles, Types, Performance and Choice.

Human Variome Project Quality Assessment Criteria for Variation Databases.

PON-mt-tRNA: a multifactorial probability-based method for classification of mitochondrial tRNA variations.

VariOtator, A Software Tool for Variation Annotation with the Variation Ontology.

Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2.

Harmful somatic amino acid substitutions affect key pathways in cancers.

Specific autoantibody profiles and disease subgroups correlate with circulating micro-RNA in systemic sclerosis.

Muddled genetic terms miss and mess the message.

No more hidden solutions in bioinformatics.

The importance of proper testing of predictor performance.

Standard development at the Human Variome Project.

Characterization of All Possible Single Nucleotide Change -Caused Amino Acid Substitutions in the Kinase Domain of Bruton Tyrosine Kinase.

PON-P2: Prediction Method for Fast and Reliable Identification of Harmful Variants.