Genetic Tests

Dear Colleagues,

Genetics testing is currently one of the most pressing needs in all disciplines in the medical field, from the beginning of life—i.e., reproductive medicine—to the late stages of our lives—i.e., cancer/chronic conditions treatment. The population in the US and Europe is getting older with two main consequences: (a) couples are looking for children at older ages with more genetic problems arising that need to be investigated; (b) genetics has moved to genomics, which also involves more common conditions, and therefore we have moved from single gene analysis to NGS revolution with large gene panels sequenced and also with increasing requests of WGS and WGS analysis. The accumulation of high-throughput sequencing data is revealing, every day, new variants that need to be interpreted to understand if they are connected with the pathogenesis of medical conditions.

This Special Issue invites research articles, reviews, and short communications including but not limited to: current approaches in genetic testing both in classical genetic conditions, in rare cases of complex syndrome, more common medical conditions with a genetic predisposition where the phenotype cannot be fully explained by the classical genomic approaches but need needs high-throughput data with new lines of analysis to reveal which genes work together to express a given trait. 

Prof. Dr. Domenico Coviello
Prof. Dr. Pablo Lapunzina
Prof. Dr. Zilfalil Alwi
Prof. Dr. Ghada El Kamah
Guest Editors

Manuscript Submission Information

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