Evaluating High-Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses.
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DOI: 10.1161/jaha.122.028226
Abstract: Background In nonsyndromic conotruncal cardiac defects, the use of next-generation sequencing for clinical diagnosis is increasingly adopted, but gene-disease associations in research are only partially translated to diagnostic panels, suggesting a need for evidence-based consensus.… read more here.
Keywords: burden analyses; high confidence; conotruncal cardiac; gene ... See more keywords