MAGPEL: an autoMated pipeline for inferring vAriant-driven Gene PanEls from the full-length biomedical literature.
PMID:32703994
Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome.
PMID:31199787
eGARD: Extracting associations between genomic anomalies and drug responses from text.
PMID:29261751
Annotating Mutational Effects on Proteins and Protein Interactions: Designing Novel and Revisiting Existing Protocols.
PMID:28188534
Protein-structure-guided discovery of functional mutations across 19 cancer types.
PMID:27294619
High-performance web services for querying gene and variant annotation.
PMID:27154141
StructMAn: annotation of single-nucleotide polymorphisms in the structural context.
PMID:27150811
DiMeX: A Text Mining System for Mutation-Disease Association Extraction.
PMID:27073839
Computational analysis of the mutations in BAP1, PBRM1 and SETD2 genes reveals the impaired molecular processes in renal cell carcinoma.
PMID:26452128
Computational screening and molecular dynamic simulation of breast cancer associated deleterious non-synonymous single nucleotide polymorphisms in TP53 gene.
PMID:25105660
MuPIT interactive: webserver for mapping variant positions to annotated, interactive 3D structures.
PMID:23793516
MSV3d: database of human MisSense Variants mapped to 3D protein structure.
PMID:22491796
Bioinformatics for personal genome interpretation.
PMID:22247263
PEPPI: a peptidomic database of human protein isoforms for proteomics experiments.
PMID:20946618
Mutation@A Glance: an integrative web application for analysing mutations from human genetic diseases.
PMID:20360267
Bioinformatic tools for identifying disease gene and SNP candidates.
PMID:20238089
In silico functional profiling of human disease-associated and polymorphic amino acid substitutions.
PMID:20052762
Improved mutation tagging with gene identifiers applied to membrane protein stability prediction.
PMID:19758467