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Methods utilizing large depth-of-coverage next-generation sequencing (NGS) with simultaneous detection of series variations and copy number variations (CNVs), we tested 25,356 unrelated people for subsets of 266 genetics. Results A definitive molecular analysis was acquired in 20% of the cohort, with yields which range from 4% among individuals with congenital myasthenic problem to 33% among those with a muscular dystrophy. CNVs accounted for just a