Inferring the molecular and phenotypic impact of amino acid variants with MutPred2.
PMID:33219223
Systematics for types and effects of RNA variations.
PMID:32951567
Poikilosis - pervasive biological variation.
PMID:32913639
Variation benchmark datasets: update, criteria, quality and applications.
PMID:32016318
Systematics for types and effects of DNA variations.
PMID:30591019
Harnessing formal concepts of biological mechanism to analyze human disease.
PMID:30586388
Enumerating consistent sub-graphs of directed acyclic graphs: an insight into biomedical ontologies.
PMID:29949985
NDDVD: an integrated and manually curated Neurodegenerative Diseases Variation Database.
PMID:29688368
PON-P and PON-P2 predictor performance in CAGI challenges: Lessons learned.
PMID:28224672
Human Variome Project Quality Assessment Criteria for Variation Databases.
PMID:26919176
ClinVar: public archive of interpretations of clinically relevant variants.
PMID:26582918
Human genotype-phenotype databases: aims, challenges and opportunities.
PMID:26553330
FROG - Fingerprinting Genomic Variation Ontology.
PMID:26244889
Improving the Sequence Ontology terminology for genomic variant annotation.
PMID:26229585
GFVO: the Genomic Feature and Variation Ontology.
PMID:26019997
Standard development at the Human Variome Project.
PMID:25818894
PON-P2: prediction method for fast and reliable identification of harmful variants.
PMID:25647319
Types and effects of protein variations.
PMID:25616435
Organizing knowledge to enable personalization of medicine in cancer.
PMID:25222080
Genetic variations and diseases in UniProtKB/Swiss-Prot: the ins and outs of expert manual curation.
PMID:24848695
Variation ontology: annotator guide.
PMID:24533660