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Molecular Medicine [Working Title]
In recent years, next-generation sequencing (NGS) platforms that facilitate generation of a vast amount of genomic variation data have become widely used for diagnostic purposes in medicine. However, identifying the potential effects of the variations and their association with a particular disease phenotype is the main challenge in this field. Several strategies are used to discover the causative mutations among hundreds of variants of uncertain significance. Incorporating information fromdoi:10.5772/intechopen.92738 fatcat:gy7xau3ulvcvvg3uvhvg6yc2we