Solving unsolved rare neurological diseases—a Solve-RD viewpoint

The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

“…To this end, 19,000 genome‐phenome datasets are in the process of being collected, processed, and analyzed in the RD‐Connect GPAP. Programmatic reanalysis of the first ~4,000 families resulted in rapid resolution of 120 families (de Boer et al, 2021; Matalonga et al, 2021; Schüle et al, 2021; te Paske et al, 2021; Topf et al, 2021). These numbers, which have increased substantially since publication, were achieved through the identification of causative variants that had either been missed by the original variant filtering strategies undertaken by submitting centers, or were dismissed as being unimportant at the time due to a lack of supporting evidence, but for which further information has come to light linking the gene to the phenotype of the case in the intervening period.…”

Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases

“…The overall implementation currently enables RD-Connect users to remotely access and visualize 11,750 datasets from patients and relatives submitted through the Solve-RD project, which has identified causative variants in hundreds of cases with an RD. 5 , 14 , 15 , 16 , 17 , 18 …”