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      Transplant genetics and genomics

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      Nature Reviews Genetics
      Springer Nature

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          Abstract

          Advances in genetics and genomics have transformed the field of organ transplantation. Here, the authors review the role of genetic dissimilarities between donor and recipient in transplant tolerance and rejection, and how the identification of genetic variants that predict adverse transplant outcomes can be used for personalized medicine.

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          Most cited references170

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          Integrated detection and population-genetic analysis of SNPs and copy number variation.

          Dissecting the genetic basis of disease risk requires measuring all forms of genetic variation, including SNPs and copy number variants (CNVs), and is enabled by accurate maps of their locations, frequencies and population-genetic properties. We designed a hybrid genotyping array (Affymetrix SNP 6.0) to simultaneously measure 906,600 SNPs and copy number at 1.8 million genomic locations. By characterizing 270 HapMap samples, we developed a map of human CNV (at 2-kb breakpoint resolution) informed by integer genotypes for 1,320 copy number polymorphisms (CNPs) that segregate at an allele frequency >1%. More than 80% of the sequence in previously reported CNV regions fell outside our estimated CNV boundaries, indicating that large (>100 kb) CNVs affect much less of the genome than initially reported. Approximately 80% of observed copy number differences between pairs of individuals were due to common CNPs with an allele frequency >5%, and more than 99% derived from inheritance rather than new mutation. Most common, diallelic CNPs were in strong linkage disequilibrium with SNPs, and most low-frequency CNVs segregated on specific SNP haplotypes.
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            The promise and challenge of high-throughput sequencing of the antibody repertoire

            Georgiou and colleagues discuss rapidly evolving methods for high-throughput sequencing of the antibody repertoire, and how the resulting data may be applied to answer basic and translational research questions.
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              Pharmacogenomics in the clinic.

              After decades of discovery, inherited variations have been identified in approximately 20 genes that affect about 80 medications and are actionable in the clinic. And some somatically acquired genetic variants direct the choice of 'targeted' anticancer drugs for individual patients. Current efforts that focus on the processes required to appropriately act on pharmacogenomic variability in the clinic are moving away from discovery and towards implementation of an evidenced-based strategy for improving the use of medications, thereby providing a cornerstone for precision medicine.
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                Author and article information

                Journal
                Nature Reviews Genetics
                Nat Rev Genet
                Springer Nature
                1471-0056
                1471-0064
                March 13 2017
                March 13 2017
                :
                :
                Article
                10.1038/nrg.2017.12
                28286337
                525498a5-2e3c-428e-b55a-795e4f53051b
                © 2017
                History

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