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If genetics and computer technologies continue to advance at their present pace, we should expect some incredible advancements in human existence in the not-too-distant future.
Fremont, CA: Genetics studies have become necessary in clinical practice and research due to rapid improvements in genomic technologies. A lot of success has been achieved in the past decade, in understanding the mechanisms that underpin genetic diseases.
Traditional karyotyping, FISH, and array-CGH approaches can detect larger genomic changes including deletions, duplications, and translocations, but single nucleotide changes are not detectable. Following the discovery of polymerase chain reactions, which allowed thousands to millions of copies of a specific DNA sequence to be generated, molecular genetic techniques arose quickly. The identification of precise nucleotide alterations in the targeted genes was made possible by DNA sequencing. Maxam and Gilbert introduced Maxam-Gilbert chemical sequencing technology, which is based on chemical alteration of DNA followed by cleavage at specified bases, to address this need. The emergence of the first generation of automated DNA sequencers has improved the manual Sanger sequencing process. The automation of DNA sequencing made it possible to sequence the human genome quickly and accurately.
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Although the automation of the classic dideoxy DNA sequencing Sanger method improves DNA sequencing efficiency, it is still not efficient in terms of cost and time. Lynx Therapeutics [49] created a new technology called massively parallel sequencing (MPS) that eliminates these drawbacks. Whole genome sequencing, exome sequencing, and transcriptome and methylation profiling have all benefited from this approach, which uses reads from numerous processes at the same time and generates vast amounts of sequence data in parallel. The cost of sequencing a human genome was reduced to less than $1.000 because of this high-throughput technology known as next-generation sequencing (NGS). After technological advancements in the near future, this method is expected to sequence a human genome in one hour for $100. NGS technology is widely employed for a range of clinical and research applications, including whole genome resequencing or targeted sequencing to find rare genomic variants, transcriptome profiling of cells, tissues, and organisms, and epigenetic marker identification for disease diagnosis.
Genome-wide detection of causative variations in single-gene disorders and complex genomic landscapes of numerous illnesses is one of the most successful utilization of NGS technology. While whole genome or whole exome sequencing is the most comprehensive strategy for diagnosing unknown diseases and discovering new disease genes, targeted sequencing with selected panels of genes can reduce sequencing time and cost by combining diseases in the same group or pathway genes in known clinical pictures. Aside from the cost savings, sequencing a small portion of the genome reduces the number of variants, which reduces the cost and time required for data interpretation.
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