Transcriptome analysis provides critical answers to the “variants of uncertain significance” conundrum
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DOI: 10.1002/humu.24394
Abstract: While whole‐genome and exome sequencing have transformed our collective understanding of genetics' role in disease pathogenesis, there are certain conditions and populations for whom DNA‐level data fails to identify the underlying genetic etiology. Specifically, patients… read more here.
Keywords: transcriptome analysis; uncertain significance; analysis; provides critical ... See more keywords