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Additional info for Covalent analogues of DNA base-pairs and triplets IV+. Synthesis of trisubstituted benzenes bearing purine and[s]or pyrimidine rings by cyclotrimerization of 6-ethynylpurines and[s]or 5-ethynyl-1,3-dimethyluracil

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2010;87(5):618–30. 41. Sahoo T, Cheung SW, Ward P, et al. Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization. Genet Med. 2006;8(11):719–27. 42. Schaeffer AJ, Chung J, Heretis K, Wong A, Ledbetter DH, Lese Martin C. Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages. Am J Hum Genet. 2004;74(6):1168–74. 43. Vissers LE, van Ravenswaaij CM, Admiraal R, et al.

3 US FDA Center for Drug Education and Research drug relabeling requirement Drug Genomic target Drug indication 6-Mercaptopurine Thiopurine methyltransferase Autoimmune, cancer and azathioprine Atomoxetine CYP2D6 Attention deficit disorder Irinotecan UGT1A1 Cancer Warfarin CYP2C9, VKORC1 Anticoagulation Abacavir HLA-B*5701 HIV Allopurinol HLA-B*5801 Gout Carbamazepine, phenytoin, HLA-B*1502 Epilepsy and fosphenytoin Codeine CYP2D6 Analgesia Clopidogrela CYP2C19 Cardiovascular disease Tamoxifen CYP2D6 Breast cancer a Black box warning issued by the FDA 3 Pharmacogenomics: Tailoring Treatment Based on Genotype 41 Fig.

These sequence variations include coding and noncoding nucleotide changes that may or may not be important in disease. At the opposite end of the spectrum are large segmental genomic rearrangements (inversions and translocations) and copy number changes (CNCs), that is, aneuploidies, marker chromosomes, and large interstitial deletions and duplications. The portion of the human genome that shows variations in segmental genomic copy numbers between individuals accounts for 12% of the DNA. Moreover, de novo copy number changes in newborns are expected to occur once in every 8 births for deletions and once in every 50 births for duplications [2].

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