作者: Robert C. Green , Heidi L. Rehm , Isaac S. Kohane
DOI: 10.1016/B978-0-12-382227-7.00009-4
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摘要: Genomic medicine has arrived and is being rapidly integrated into due to the reduced costs increasing sophistication of next-generation sequencing. This chapter describes laboratory sequencing, informatics analysis, clinical applications that will face those using whole-exome whole-genome sequencing in practice medicine. In anticipation widespread availability genomes near future, particular emphasis placed upon challenges clinicians dealing with incidental or secondary genomic findings communicating ambiguous risk information.