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 ...

Large and rare duplications and deletions in a chromosome region known as 22q11.2 , which involves genes that regulate cardiac development, are linked to nonsyndromic bicuspid aortic valve disease.