Next-generation carrier screening: are we ready?

Next-generation carrier screening: are we ready?
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DOI:
10.1186/s13073-014-0062-x
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发表时间:
2014
期刊:
影响因子:
12.3
通讯作者:
Prior TW
Prior TW
中科院分区:
生物学1区
文献类型:
--
作者:
Prior TW

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下一代测序(NGS)方法允许对当前的携带者筛查测试进行重大扩展。NGS测试已被证明在分析上准确且具有成本效益,但主要挑战包括教育和咨询问题。
Next-generation sequencing (NGS) methodology allows for a major expansion in current carrier screening tests. NGS testing has been shown to be analytically accurate and cost-effective, but major challenges include educational and counseling issues.
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