TAILIEUCHUNG - báo cáo khoa học: " The $1,000 genome, the $100,000 analysis?"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: The $1,000 genome, the $100,000 analysis? | Mardis Genome Medicine 2010 2 84 http content 2 11 84 w Genome Medicine MUSINGS L__ The 1 000 genome the 100 000 analysis Elaine R Mardis Having recently attended the Personal Genomes meeting at Cold Spring Harbor Laboratories I was an organizer this year I was struck by the number of talks that described the use of whole-genome sequencing and analysis to reveal the genetic basis of disease in patients. These patients included a child with irritable bowel disease a child with severe combined immunodeficiency two siblings affected with Miller syndrome and several with cancers of different types. Although each presenter emphasized the rapidity with which these data can now be generated using next-generation sequencing instruments they also listed the large number of people involved in the analysis of these datasets. The required expertise to solve each case included molecular and computational biologists geneticists pathologists and physicians with exquisite knowledge of the disease and of treatment modalities research nurses genetic counselors and IT and systems support specialists among others. While much of the attendant effort was focused on the absolute importance of obtaining the correct diagnosis the large number of specialists was critical for the completion of the data analysis the annotation of variants the interpretive filtering necessary to deduce the causative or actionable variants the clinical verification of these variants and the communication of results and their ramifications to the treating physician and ultimately to the patient. At the end of the day although the idea of clinical whole-genome sequencing for diagnosis is exciting and potentially life-changing for these patients one does wonder how in the clinical translation required for this practice to become commonplace such a dream team of specialists would be assembled for each case. In other words even if the cost and speed of generating sequencing data continue .

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