E-SNPs&GO: embedding of protein sequence and function improves the annotation of human pathogenic variants.
Matteo ManfrediCastrense SavojardoPier Luigi MartelliRita CasadioPublished in: Bioinform. (2022)
Keyphrases
- protein sequences
- single nucleotide polymorphisms
- computational biology
- protein structure
- computational approaches
- sequence analysis
- amino acid sequences
- biological sequences
- genotype phenotype
- secondary structure
- amino acids
- human genome
- protein function
- data analysis
- machine learning
- experimentally determined
- protein classification
- protein structure prediction
- sequence alignment
- genetic algorithm