Terkko Navigator / Vihinen, M(auno)

BTK gatekeeper residue variation combined with cysteine 481 substitution causes super-resistance to irreversible inhibitors acalabrutinib, ibrutinib and zanubrutinib

Functional effects of protein variants

Poikilosis - pervasive biological variation

Systematics for types and effects of RNA variations

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

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 toward 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?

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

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

Types and effects of protein variations

Finding our way through phenotypes