【摘 要】
：
With the rapid advances in high-throughput sequencing technologies,exome sequencing and targeted region sequencing will become routine approaches for identifying mutations of inherited diseases in bot
【机 构】
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Departments of Psychiatry,The University of Hong Kong,Hong Kong SAR,China;Departments of Centre for
【出 处】
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The 2nd International Rare Diseases Research Consortium Conf
论文部分内容阅读
With the rapid advances in high-throughput sequencing technologies,exome sequencing and targeted region sequencing will become routine approaches for identifying mutations of inherited diseases in both genetics research and molecular diagnosis.And there is an imminent need of comprehensive and easy-to-use downstream analysis tool for isolating causal mutations in exome sequencing studies.
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