Article
Using multi-scale genomics to associate poorly annotated genes with rare diseases.
Genome medicine - 4 Jan 2024
Canavati Christina, Sherill-Rofe Dana, Kamal Lara, Bloch Idit, Zahdeh Fouad, Sharon Elad, Terespolsky Batel, Allan Islam Abu, Rabie Grace, Kawas Mariana, Kassem Hanin, Avraham Karen B, Renbaum Paul, Levy-Lahad Ephrat, Kanaan Moien, Tabach Yuval
Abstract excerpt
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...
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