Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.
Sunayna BestJenny LordMatthew RocheChristopher Mark WatsonJames A PoulterRoel P J BeversAlex StuckeyKatarzyna SzymanskaJamie M EllingfordJenny CarmichaelHelen BrittainCarmel ToomesChris InglehearnColin A JohnsonGabrielle Whewaynull nullPublished in: Journal of medical genetics (2021)
These data illustrate the power of linking large-scale genome sequence to phenotype information. They demonstrate the value of research collaborations in order to maximise interpretation of genomic data.