Using multi-scale genomics to associate poorly annotated genes with rare diseases
Christina Canavati,
Dana Sherill-Rofe,
Lara Kamal
et al.
Abstract:Background
Next-generation sequencing (NGS) has significantly transformed the landscape of identifying disease-causing genes associated with genetic disorders. However, a substantial portion of sequenced patients remains undiagnosed. This may be attributed not only to the challenges posed by harder-to-detect variants, such as non-coding and structural variations but also to the existence of variants in genes not previously associated with the patient’s clinical phenotype. This study introduces … Show more
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