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Unveiling the hidden: revisiting the potential of old genetic data for rare disease research

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  1. Ji J, Leung ML, Baker S, Deignan JL, Santani A. Clinical exome reanalysis: current practice and beyond. Mol Diagn Ther. 2021;25:529–36.

    Article  PubMed  PubMed Central  Google Scholar 

  2. Richards S, Aziz N, Bale S, Bick D, Das S, Gastrier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24.

    Article  PubMed  PubMed Central  Google Scholar 

  3. Tobias Bartolomaeus JH, Jamra RA, Popp B: Re-evaluation and Re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18%. Eur J Human Genet. 2023.

  4. Reuter MS, Tawamie H, Buchert R, Gebril OH, Froukh T, Thiel C, et al. Diagnostic yield and novel candidate genes by exome sequencing in 152 consanguineous families with neurodevelopmental disorders. JAMA Psychiatry. 2017;74:293–9.

    Article  PubMed  Google Scholar 

  5. Lieberwirth JK, Buttner B, Klockner C, Platzer K, Popp B, Abou Jamra R. AutoCaSc: prioritizing candidate genes for neurodevelopmental disorders. Hum Mutat. 2022;43:1795–807.

    Article  PubMed  Google Scholar 

  6. SoRelle JA, Thodeson DM, Arnold S, Gotway G, Park JY. Clinical utility of reinterpreting previously reported genomic epilepsy test results for pediatric patients. JAMA Pediatr. 2019;173:e182302.

    Article  PubMed  Google Scholar 

  7. Xiang J, Yang J, Chen L, Chen Q, Yang H, Sun C, et al. Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades. Sci Rep. 2020;10:331.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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Correspondence to Allan Bayat.

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Bayat, A. Unveiling the hidden: revisiting the potential of old genetic data for rare disease research. Eur J Hum Genet 31, 1093–1094 (2023).

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