التفاصيل البيبلوغرافية
| العنوان: |
Detection of the Copy Number Variants of Genes in Patients with Familial Cardiac Diseases by Massively Parallel Sequencing. |
| المؤلفون: |
Blanco-Verea, Alejandro, Piñeiro, Brais, Gil, Rocio, Ramos-Luis, Eva, Álvarez-Barredo, María, López-Abel, Bernardo, Sobrino, Beatriz, Amigo, Jorge, González-Juanatey, José Ramón, Carracedo, Ángel, Brion, María |
| المصدر: |
Molecular Diagnosis & Therapy; Jan2023, Vol. 27 Issue 1, p105-113, 9p |
| مصطلحات موضوعية: |
GENETIC disorders, GENETIC variation, HEART diseases, DNA copy number variations, CARDIAC patients, EXOMES, CARDIOVASCULAR diseases |
| مستخلص: |
Introduction: The implication of copy number variations in familial heart disease is known, although in-depth knowledge is lacking; hence, more studies are needed to further our understanding. Massively parallel sequencing, thanks to its recent surge in use, is emerging as a valid tool for the detection of this type of variant, through the use of appropriate software. Methods: We conducted a study with 182 patients diagnosed with mendelian cardiovascular diseases who underwent sequencing using a cardiac gene panel and then a specific calling process for copy number variations (CNVs) with ExomeDepth software, which provides us with a Bayes factor (BF), a score of the probability that a CNV detected is true. Results: After a rigorous CNV prioritization process, we confirmed the variants obtained by MLPA or SNP-based array, finding three real CNVs in five individuals in the MYH11, FBN1 and PDMI7 genes. Conclusion: The confirmed CNVs present in all cases BF values > 60, thus establishing a threshold to consider real CNVs in the calling process carried out by ExomeDepth on our gene panel. [ABSTRACT FROM AUTHOR] |
|
Copyright of Molecular Diagnosis & Therapy is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) |
| قاعدة البيانات: |
Complementary Index |