E-SNPs&GO: embedding of protein sequence and function improves the annotation of human pathogenic variants

Matteo Manfredi, Castrense Savojardo, Pier Luigi Martelli, Rita Casadio. E-SNPs&GO: embedding of protein sequence and function improves the annotation of human pathogenic variants. Bioinformatics, 38(23):5168-5174, November 2022. [doi]

@article{ManfrediSMC22,
  title = {E-SNPs&GO: embedding of protein sequence and function improves the annotation of human pathogenic variants},
  author = {Matteo Manfredi and Castrense Savojardo and Pier Luigi Martelli and Rita Casadio},
  year = {2022},
  month = {November},
  doi = {10.1093/bioinformatics/btac678},
  url = {https://doi.org/10.1093/bioinformatics/btac678},
  researchr = {https://researchr.org/publication/ManfrediSMC22},
  cites = {0},
  citedby = {0},
  journal = {Bioinformatics},
  volume = {38},
  number = {23},
  pages = {5168-5174},
}