TY  - GEN 
AU  - Naranjo Varela, Pablo Román
AU  - Parra Pérez, Alberto Manuel
AU  - López Escámez, José Antonio
PY  - 2023
UR  - https://hdl.handle.net/10481/83529
AB  - Background: The diagnosis of rare genetic diseases is often challenging due to the complexity of the genetic underpinnings of these conditions and the limited availability of diagnostic tools. Machine learning (ML) algorithms have the potential to...
LA  - eng
PB  - Elsevier
KW  - Artificial intelligence
KW  - Rare diseases
KW  - Precision medicine
KW  - Rare variants
KW  - DNA-sequencing
KW  - Genomics
TI  - A systematic review on machine learning approaches in the diagnosis and prognosis of rare genetic diseases
DO  - 10.1016/j.jbi.2023.104429
ER  -