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- Precision diagnostics is a branch of precision medicine where a patient's healthcare model is precisely managed and specific diseases are diagnosed based on the patient's customized omics data analytics. The general idea started in 2015 when Barack Obama's Precision medicine initiative was launched. A year after the launch of the precision Medicine initiative, the Human Personal Omics Profiling study was launched to establish integrative multi-omics approaches that could be used for precision diagnosis. Each person's diseases are early diagnosed based on their variability in DNA, environment, and lifestyle. This is achieved through recent technological advances in data acquisition from genomics, transcriptomics, epigenomics, proteomics, metabolomics, and microbiome studies. Through precise monitoring of collateral molecular layers, the whole picture of the personal molecular profile in an unbiased manner is attained. Additionally, contemporary computational algorithms enhance data analysis from these omics data generated, and data management is further improved through digital technologies. Moreover, advancements in artificial intelligence, especially convolutional neural networks and extensive data analysis, are used to further predict the association between genotype and phenotype, which could improve sensitivity and specificity in precision diagnosis. With the advancement of Next generation sequencing (NGS), cancer diagnostics are achieved more precisely. NGS offers a complete perspective in decoding the genome over any other single gene assays. NGS-based molecular diagnostics provide genomic information about tumor-related variants and cancer-causing structural alterations. Having this highly accurate diagnosis, complementary targeted novel therapies are possible. In NGS, samples are collected through a buccal swab or peripheral blood or tissue-specific biopsy, and DNAs are used to screen for single nucleotide variants, gene insertion/deletion, and copy number variants, while RNA is used for measuring gene expression. (en)
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