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I think this is the paper about the Ampli LowPass sequencing technique. Although, I didn't read it thoroughly but from the abstract and result section titles, it appears that this technique is designed for detecting CNVs. Since it is low pass (i.e. low coverage), it may not detect substitutions and small indels accurately. Your cells may have mutations but ...


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It might be useful to look at how 23andme works, to see how this analysis product is generated, in general: The 23andMe genotyping platform detects single nucleotide polymorphisms (SNPs). A SNP is a DNA location, or "marker," in the genome that has been shown to vary among people in terms of the DNA base or bases. There are four DNA bases: adenine (A), ...


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This question is both easy and hard to answer: DNA and its (known) functions have been described in scientific literature, textbooks and databases for the last few decades, but because this is a enormous amount of data there is no single source or collection that could comprehensively catalog all this information. Information on genomes and genes has been ...


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