IDeRare: a lightweight and extensible open-source phenotype and exome analysis pipeline for germline rare disease diagnosis.

Ivan William Harsono Yulia Ariani Beben Benyamin Fadilah Fadilah Dwi Ari Pujianto Cut Nurul Hafifah

Published in: JAMIA open (2024)

IDeRare is freely available under the BSD-3 license, obtainable via GitHub. The portability of IDeRare pipeline could be easily implemented for semi-technical users and extensible for advanced users.

Keyphrases

dna repair
copy number
oxidative stress
dna damage
dna methylation