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Systems and methods for interpreting a human genome using a synthetic reference sequence
Systems and methods for interpreting a human genome using a synthetic reference sequence
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机译:使用合成参考序列解释人类基因组的系统和方法
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摘要
In an embodiment of the present invention, three novel human reference genome sequences were developed based on the most common population-specific DNA sequence (“major allele”). Methods were developed for their integration into interpretation pipelines for highthroughput whole genome sequencing.
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