Mutation Analysis of the Main Hypertrophic Cardiomyopathy Genes Using Multiplex Amplification and Semiconductor Next-Generation Sequencing

Significance and Value of Endomyocardial Biopsy Based on Our Own Experience

“…58 Depending on the type of genetic abnormality, the phenotype is likely to differ slightly. However, no reports have summarized this.…”

ABCB1 (MDR-1) pharmacogenetics of tacrolimus in renal transplanted patients: a Next Generation Sequencing approach

“…We had previously demonstrated that this pooling approach is valid to identify rare variants that are diluted by the common allele [11,12] . The DNA from each patient was obtained from blood leukocytes and adjusted to 10 ng/ μ L using the Real Time Taqman quantifi cation with RNase P (Life Technologies).…”

Review and Updates in Regenerative and Personalized Medicine, Preclinical Animal Models, and Clinical Care in Cardiovascular Medicine

“…However, this approach has the main disadvantage of diluting the mutation that one patient may have wild type alleles from all other patients, making it undetectable by DNA sequencing. Interestingly, in 2014, Juan Gómez and colleagues developed a protocol that allows sensitive identification of gene variants from pooled samples [13]. The authors focused on the following DNAvariants in genes associated with long QTsyndrome or Brugada syndrome: SCN5A, KCNH2, KCNQ1, KCNE1, and KCNE2.…”