2018,
Genetics in Medicine.
DOI:
10.1038/s41436-018-0295-y
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease
Andrew M. Gross, Subramanian S. Ajay, Vani Rajan, Carolyn Brown, Krista Bluske, Nicole J. Burns, Aditi Chawla, Alison J. Coffey, Alka Malhotra, Alicia Scocchia, Erin Thorpe, Natasa Dzidic, Karine Hovanes, Trilochan Sahoo, Egor Dolzhenko, Bryan Lajoie, Amirah Khouzam, Shimul Chowdhury, John Belmont, Eric Roller, Sergii Ivakhno, Stephen Tanner, Julia McEachern, Tina Hambuch, Michael Eberle, R. Tanner Hagelstrom, David R. Bentley, Denise L. Perry, Ryan J. Taft
Abstract:
No abstract available.
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半面阳光:
#paper DOI: 10.1038/s41436-018-0295-y genetics in medicine, 2019,Performance of prenatal cfDNA screening for sex chromosomes. Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease. 这篇文献是用测序的方法进行疾病相关的CNVs检测。研究分析比较了17个参考样本的测序和临床芯片检测CNVs的结果。进一步建立了以家庭为单位的基于测序技术的CNVs calling方法，并用79个罕见或未确诊案例的样本对该方法进行了验证。结果表明测序在CNV calling上与芯片效果无差。此外，文章建立的方法还可以检出UPD和三体的嵌合情况。这是一篇关注测序技术用于临床CNVsj检测文章，是了解目前临床已经广泛开展的CNV-Seq检测方法的前导和基础参考。