Identification of Spliceogenic Variants beyond Canonical GT-AG Splice Sites in Hereditary Cancer Genes
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DOI: 10.3390/ijms23137446
Abstract: Pathogenic/likely pathogenic variants in susceptibility genes that interrupt RNA splicing are a well-documented mechanism of hereditary cancer syndromes development. However, if RNA studies are not performed, most of the variants beyond the canonical GT-AG splice… read more here.
Keywords: canonical splice; beyond canonical; hereditary cancer; variants beyond ... See more keywords
Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism
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DOI: 10.3390/ijms232112850
Abstract: Inborn errors of metabolism (IEM) constitute a huge group of rare diseases affecting 1 in every 1000 newborns. Next-generation sequencing has transformed the diagnosis of IEM, leading to its proposed use as a second-tier technology… read more here.
Keywords: identification clinical; inborn errors; errors metabolism; diagnosis ... See more keywords