Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families

Abstract Despite large sequencing and data sharing efforts, previously characterized pathogenic variants only account for a fraction of Mendelian disease patients, which highlights the need for accurate identification and interpretation of novel variants. In a large Mendelian cohort of 4577 molecula...

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Bibliographic Details
Main Authors: Lama AlAbdi, Sateesh Maddirevula, Hanan E. Shamseldin, Ebtissal Khouj, Rana Helaby, Halima Hamid, Aisha Almulhim, Mais O. Hashem, Firdous Abdulwahab, Omar Abouyousef, Mashael Alqahtani, Norah Altuwaijri, Amal Jaafar, Tarfa Alshidi, Fatema Alzahrani, Mendeliome Group, Fowzan S. Alkuraya
Format: Article
Language:English
Published: Nature Portfolio 2023-08-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-023-40909-3

Internet

https://doi.org/10.1038/s41467-023-40909-3

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