Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases.
Wei LiuSander PajusaluNicole J LakeGeyu ZhouNilah IoannidisPlavi MittalNicholas E JohnsonConrad C WeihlBradley A WilliamsDouglas E AlbrechtLaura E RufibachMonkol LekPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
The increasing size of aggregated population variant databases will allow for robust and reproducible prevalence estimates of recessive disease, which is critical for the strategic design and prioritization of clinical trials.