Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...
Frequency and phenotypic spectrum of the 64 pathogenic/likely pathogenic CNVs comparing with 19,775 patients from the LOVD. CNVs, copy number variants; P, pathogenic; LP, likely pathogenic; VUS, ...
Accurate prediction of CYP2D6 activity from genotype data is of utmost importance as CYP2D6 pharmacogenetic (PGx) testing is increasingly used to guide drug therapy. However, given the complexity of ...
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