Textbook of Personalized Medicine - Second Edition [2015]

60 Haplotyping is an alternative approach to SNP genotyping. Haplotyping information makes it possible to highlight the structur ...

61 heterozygous SNPs into long haplotype blocks. This method also facilitates the analysis of structural variation, for example, ...

62 of equal or greater quality using substantially less sequencing effort. Tools that facilitate access to phase information wil ...

63 automated enzymatic reactions that produce genotype specifi c diagnostic products. Very small quantities of these products, t ...

64 In a separate process, biosensors are created by affi xing a specifi c type of molecule to each of the billions of microscopi ...

65 (18–22) on gold electrodes by combining redox-active intercalators with exogenous electrocatalytic species. None of these met ...

66 Y). One primer for the X allele is set to include X′ at the 3′ end (antisense), where X′ is the antisense of X, with the coun ...

67 Molecular Inversion Probe Based Assays A molecular inversion probe (MIP) is an unmodifi ed oligonucleotide (110–140 bases) th ...

68 Smart Amplifi cation Process Version 2 A rapid SNP detection system called smart amplifi cation process version 2 (SMAP 2) ha ...

69 genotyping, determining the restriction fragment length polymorphisms (RFLPs) is still one of the most convenient and cost-sa ...

70 a single base pair mismatch can be identifi ed by the conductance of the molecule and can cause a change in the conductance o ...

71 in the human genome, which can also be used for the reliable identifi cation of large copy-variable regions. Problems with th ...

72 broaden the range of discovered CNVs. CNVnator was calibrated by using the extensive validation performed by the 1000 Genomes ...

73 Sequencing DNA in subset of patients most likely to carry causative mutations leads to identifi cation of more actual mutatio ...

74 techniques, which identifi es both the amino acid sequences of proteins and their posttranslational appendages. This approach ...

75 2D PAGE and Mass Spectrometry The essence of 2D PAGE (poly-acrylamide gel electrophoresis) approach is to sepa- rate proteins ...

76 Gene Expression Profi ling The activity of a gene, so called gene “expression” means that its DNA is used as a blueprint to p ...

77 Less than half of all genes are expressed in a typical human cell, but the expressed genes vary from one cell to another and ...

78 Although there are other, non-array methods for analyzing gene expression, such as serial analysis of gene expression (SAGE), ...

79 create a diverse array of mRNAs from a single pre-mRNA, a process referred to as alternative RNA splicing. Splicing is the cr ...