It’s a privilege to announce Solve-RD’s latest manuscript based on years of work: “Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses” www.nature.com/articles/s41... A thread (1/n) - ThreadSky

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ahoischen.bsky.social • 41 days ago

It’s a privilege to announce Solve-RD’s latest manuscript based on years of work: “Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses”
https://www.nature.com/articles/s41591-024-03420-w
A thread (1/n)

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ahoischen.bsky.social•41 days ago

This pan-European data re-analysis involved a massive effort by so many! With the gratifying result to allow a diagnosis in >500 of >6,000 previously undiagnosed rare disease (RD) patients and families. (2/n)

ahoischen.bsky.social•41 days ago

Some of the main lessons: solve-RD brought together:
- Data: data sharing works across all of Europe across all different systems and legislations.
- RD expertise: >300 experts: colleagues, collaborators and friends. (3/n)

ahoischen.bsky.social•41 days ago

- re-analysis of even very heterogeneous datasets can be successful. The ever growing toolset, as well as knowledge about genes and variants makes existing data extremely valuable. This pan-continental effort replicates massive national efforts. (4/n)

ahoischen.bsky.social•41 days ago

- coding SNVs/InDels were classified as (likely) disease causing now, because a) same variant was identified and classified as pathogenic in meantime (eg ClinVar); (5/n)

ahoischen.bsky.social•41 days ago

b) the disease gene was only recently described; c) the variant was new/private but Solve-RD allowed a consensus of two-level-expert review (data analysis and data interpretation experts) (6/n)

ahoischen.bsky.social•41 days ago

- a significant proportion of cases were diagnosed thanks to “non-standard variant types” that were newly called by latest tools: CNVs, SVs, MEI, STR, mtDNA, deep-intrinsic splice sites (7/n)

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