Population genetic analysis of structural variants from low-coverage sequence data with an expectation-maximization algorithm. Manual and supplementary text
نویسندگان
چکیده
2. Reference count ( oat). It is the number of times the reference allele has been observed in this individual, in the locus being analysed. For example, for a structural variant detected with paired-end sequencing, it is the number of concordant pairs of reads compatible with the site being in standard conformation. If di erent qualities are assigned to the observations, the expected number of observations should be reported here, calculated as the summation of the probabilities of the counts being true.
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