Unveiling the hidden: revisiting the potential of old genetic data for rare disease research
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s41431-023-01435-4.pdf
Reference7 articles.
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.
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.
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. https://doi.org/10.1038/s41431-023-01425-6
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.
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.
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