Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Solving the unsolved rare diseases in Europe

“…In an accompanying paper, Matalonga et al [ 2 ]—describe the first results of the approach to solve rare diseases through programmatic reanalysis of genome-phenome data. It details the technological approaches that have been taken to enable a secure, fast and cost-effective automated re-analysis.…”

“…Somatic variants in PIK3CA are usually associated with overgrowth, a phenotype that was not observed in this patient. Schüle et al [ 6 ]—belonging to ERN-RND (rare neurological diseases) describe three cases which have been solved by the Solve-RD re-analysis. These cases have not been solved earlier because (a) the respective genetic variant has been included in the ClinVar database after the initial genetic workup (example ITPR1 gene); (b) exon-intron boundaries commonly covered by WES allowed to find a non-coding variation causing RND (example POLR3A ) and (c) initial research centred on disease-specific panels (example EXOSC3 associated disease).…”