半面阳光
(2025-01-31 23:02):
#paper DOI: 10.1002/ctm2.70129. Clin. Transl. Med. 2024, Advancing prenatal diagnosis through comprehensive fetal cell-free DNA screening. 这篇文章是一篇综合评述性的论文，介绍了基于coordinative allele-aware target-enrichment sequencing(COATE-seq) 测序的NIPT2.0检测方案。NIPT2.0将传统NIPT的检测范围从检测常见染色体非整倍体异常拓展到了能够检测特定类别的单基因疾病和某些拷贝数变异（CNVs）。同时NIPT2.0的检测效果表现得更优于传统的NIPT检测。
Clinical and Translational Medicine,
2024-12.
DOI: 10.1002/ctm2.70129
Advancing prenatal diagnosis through comprehensive fetal cell‐free DNA screening
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Abstract:
No abstract available.
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