Rare disorders have many faces: in silico characterization of rare disorder spectrum.

Simona D FrederiksenVladimir AvramovićTatiana MaroilleyAnna LehmanLaura ArbourMaja Tarailo-Graovac

Published in: Orphanet journal of rare diseases (2022)

Recognizing that RD patients who remain unsolved even after genome sequencing might belong to the more common end of the RD spectrum support the usage of computational pipelines that account for more complex genetic and phenotypic scenarios.

Keyphrases

genome wide
climate change
molecular docking
single cell
dna methylation