Medical genomics
نویسندگان
چکیده
منابع مشابه
Structural Variation and Medical Genomics
The decade since the assembly of the human genome has witnessed dramatic advances in understanding the genetic differences that distinguish individual humans and that are responsible for specific traits. Genomewide association studies (GWAS) in humans have identified common germline, or inherited, DNA variants that are associated with various common human diseases, including diabetes, heart dis...
متن کاملChapter 6: Structural Variation and Medical Genomics
Differences between individual human genomes, or between human and cancer genomes, range in scale from single nucleotide variants (SNVs) through intermediate and large-scale duplications, deletions, and rearrangements of genomic segments. The latter class, called structural variants (SVs), have received considerable attention in the past several years as they are a previously under appreciated ...
متن کاملThe emergence of human-evolutionary medical genomics
In this review, I describe how evolutionary genomics is uniquely suited to spearhead advances in understanding human disease risk, owing to the privileged position of genes as fundamental causes of phenotypic variation, and the ability of population genetic and phylogenetic methods to robustly infer processes of natural selection, drift, and mutation from genetic variation at the levels of fami...
متن کاملPrimer on medical genomics. Part XI: Visualizing human chromosomes.
In the past century, various methods to visualize human chromosomes were discovered. Chromosome analyses provide an overall view of the human genome that cannot be achieved with any other approach. The methods to visualize chromosomes include various techniques to produce bands along chromosomes, specialized procedures for specific disorders, and fluorescent-labeled DNA for targeted loci. Cytog...
متن کاملPrimer on medical genomics. Part X: Gene therapy.
Gene therapy is defined as any therapeutic procedure in which genes are intentionally introduced into human somatic cells. Both preclinical and clinical gene therapy research have been progressing rapidly during the past 15 years; gene therapy is now a highly promising new modality for the treatment of numerous human disorders. Since the first clinical test of gene therapy in 1989, more than 60...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2001
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5200727