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Bioinformatics and Computational Tools for Next-Generation Sequencing Analysis in Clinical Genetics
2020
Journal of Clinical Medicine
Clinical genetics has an important role in the healthcare system to provide a definitive diagnosis for many rare syndromes. It also can have an influence over genetics prevention, disease prognosis and assisting the selection of the best options of care/treatment for patients. Next-generation sequencing (NGS) has transformed clinical genetics making possible to analyze hundreds of genes at an unprecedented speed and at a lower price when comparing to conventional Sanger sequencing. Despite the
doi:10.3390/jcm9010132
pmid:31947757
pmcid:PMC7019349
fatcat:on74xvbjmzcwdndq4ylnzrxxte