Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome.
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DOI: 10.1136/jmg-2022-108931
Abstract: PURPOSE Whereas most human genes encode multiple mRNA isoforms with distinct function, clinical workflows for assessing this heterogeneity are not readily available. This is a substantial shortcoming, considering that up to 25% of disease-causing gene… read more here.
Keywords: rna sequencing; rna; read rna; capture ultradeep ... See more keywords