@misc{indiciaef43252b6653a,
  title = {The Genomics and Genetics of Rare Disease Illuminate Human Biology.},
  author = {James R Lupski and Richard A Gibbs},
  year = {2026},
  doi = {10.1146/annurev-genom-020525-014546},
  url = {https://pubmed.ncbi.nlm.nih.gov/41780058/},
  note = {Source identifier: 41780058}
}