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, ...

Researchers used whole genome microarray genotyping on 272 bicuspid aortic valve patients with early onset valve or aortic disease and 272 biological relatives. They analyzed all copy number ...