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Article

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

Nature communications - 29 Aug 2023

AlAbdi Lama, Maddirevula Sateesh, Shamseldin Hanan E, Khouj Ebtissal, Helaby Rana, Hamid Halima, Almulhim Aisha, Hashem Mais O, Abdulwahab Firdous, Abouyousef Omar, Alqahtani Mashael, Altuwaijri Norah, Jaafar Amal, Alshidi Tarfa, Alzahrani Fatema, Alkuraya Fowzan S

Abstract excerpt

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 molecularly characterized families, numerous scenarios in which variant identification and interpretation can be challenging are...

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PMID: 37644014
DOI: 10.1038/s41467-023-40909-3
PMCID: PMC10465531

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