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文献和实验Characterizing and Interpreting Genetic Variation from Personal Genome Sequencing
Since the completion of the human genome project, there has been enormous progress in the development of novel technologies for DNA sequencing. The advent of next-generation sequencing technologies now makes it possible to sequence an entire
Genome‐Scale Sequencing to Identify Genes Involved in Mendelian Disorders
disease‐gene finder for personal genomes. Genome Res. 21:1529‐1542. Yang, Z. 1995. A space‐time process model for the evolution of DNA sequences. Genetics 139:993‐1005
Ajay, S.S., Parker, S.C., Abaan, H.O., Fajardo, K.V., and Margulies, E.H. 2011. Accurate and comprehensive sequencing of personal genomes. Genome Res. 219:1498‐1505.
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