English to Russian Law/Patents Biology (-tech,-chem,micro-) Секвенирование генома

What criteria are used to call a region homozygous reference?
We report the strength of evidence for homozygous reference calls in the coverageRefScore files. See
“What is the “Reference Score” and what is it used for?” Reference score is one metric used to flag
regions of the genome for de novo assembly. (A second metric based on De Bruijn graphs is designed
to also flag regions for de novo assembly containing indels and block substitutions, where mapping
individual reads is more difficult.)
To call an unassembled region homozygous reference, a reference score of 10 dB or higher must be
achieved. To achieve this score, typically at least four reads need to map to the position and be
consistent with the reference sequence, although the precise number needed depends on mapping
probabilities, base-call quality scores, and the number of concordant and discordant calls. In
addition, a small number of homozygous reference regions are determined by the assembler.

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