Titlebook: Genomic Applications in Pathology; George Jabboure Netto,Iris Schrijver Book 20151st edition Springer Science+Business Media New York 2015

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https://doi.org/10.1007/978-1-349-26567-1f NGS platforms has made whole-exome sequencing (WES) possible, leading to tremendous improvements in the technology, throughput, cost, and efficiency of variant detection and disease diagnosis. This in turn has brought a paradigm shift in clinical and medical genetics. WES and whole-genome sequenci

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Piyush Tiwari,Jyoti Rao,Jennifer Daye testing, let alone genomic analysis. Pathologists, given their background in molecular diagnostics and experience directing clinical laboratories, must play a major role in translating genomic technology to patient care. This chapter reviews the significant progress that the pathology community has made in genomic medicine training.

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978-1-4939-4647-1Springer Science+Business Media New York 2015

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Current Massively Parallel Sequencing Technologies: Platforms and Reporting Considerations150–200 bp) DNA region at a time, using a specific pair of complementary primers targeted to just that area of interest, the new sequencing platforms utilize a shotgun approach, randomly shearing the entire genome into over 300 million small fragments, sequencing each of them repeatedly in parallel,

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