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Titlebook: Clinical Applications of Nucleic Acid Amplification; Meagan B. Myers,Cynthia A. Schandl Book 2023 The Editor(s) (if applicable) and The Au

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Mate Pair Sequencing: Next-Generation Sequencing for Structural Variant DetectionAypar et al., Eur J Haematol 102(1):87–96, 2019; Smadbeck et al., Blood Cancer J 9(12):103, 2019) and are particularly helpful in characterizing genomic rearrangements. Mate pair sequencing (MPseq) leverages a unique library preparation chemistry involving circularization of long DNA fragments, allo
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Rapid Whole Genome Sequencing for Diagnosis of Single Locus Genetic Diseases in Critically Ill Child genetic diseases. Rapid whole genome sequencing (rWGS), including sample preparation, short-read sequencing-by-synthesis, informatics pipelining, and semiautomated interpretation, can now identify nucleotide and structural variants associated with most genetic diseases with robust analytic and diag
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Rapid Cycle and Extreme Polymerase Chain Reactionce quality for speed; sensitivity, specificity, and yield are equivalent or better than conventional PCR. What is required (and not widely available) is rapid, accurate control of reaction temperature during cycling. Specificity improves with cycling speed, and efficiency can be maintained by increa
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