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To define the parameters of technical variation in WGS, ADS, and Sanger sequencing, we determined for each technology the allelic ratio of inherited SNVs as a proxy for true heterozygous mutations. The allelic ratio was defined as the proportion of variant reads from the total number of sequencing reads covering a given base pair and is expressed here as a percentage. We established the distribution of the allelic ratio for true heterozygous variants inWGS data by determining the allelic ratio of 115 inherited SNVs (coding, synonymous variants absent from dbSNP138 or present at a frequency below 1.5%) from WGS data of a single individual. 问题1:proxy在文中的含义 问题2:115 inherited SNVs (coding, synonymous variants absent from dbSNP138 or present at a frequency below 1.5%) from WGS data of a single individual 这句话怎么理解？ absent from dbSNP138 是强调SNV是新发现的么？a frequency below 1.5%是强调这些突变在人群中低频么？ |
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