HiFi LRS in a unique cohort of 293 individuals from 114 RD families. The study cohort consists of two subcohorts: the “unsolvables” (families affected by clinically well-recognizable syndromes for which the cause is yet unknown) and the “unsolved” (families affected by a rare neurological, neuromuscular, or epilepsy disease). All patients were recruited via four European Reference Networks and subsequently sequenced using a single SMRT cell of sequencing data per individual. Genome-wide calling of SVs and SNVs was conducted, and STRs were genotyped at 56 known disease-associated loci. (ERN) European Reference Network, (BND) breakend call, (INH) inherited variant, (DNM) de novo mutation.
