patents. en francaise... détection d'une variation génétique, comprenant les étapes suivantes consistant à : obtenir les séquences pour le séquençage à partir de l'échantillon d'analyse ; aligner les séquences pour le séquençage avec les séquences du génome de référence ;

Most current methods are based on the direct analysis of mutations known to be associated with cancer (Diehl F et al. Proc Natl Acad Sci 2005; 102: 16368-16373; Forshew T et al. Sci Transl Med 2012; 4: 136ra68). Another method has investigated cancer-associated copy number variations detected by random sequencing of plasma DNA

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Note added at 5 horas (2022-02-27 18:49:44 GMT)
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https://www.linguee.com/english-chinese/search?query=对照血液样本 control sample, reference sample, check sample, normal sample.

Traaduction .....peut'etre.... Control Blood Samples
Reproductive (resulting) variants are inheritable mutations detected in control blood samples, that is check samples, reference (initial or known) samples

I will leave the answer for some person who is actually an expert.


我将把回答问题的过程留给一些真正是专家的人。