FIELD: biotechnology.
SUBSTANCE: invention relates to molecular biology. Described is a method of detecting variations in the number of copies in a sample based on data of simultaneous sequencing of the complete human exome and sequencing of the genome with low coverage of not less than 0.1 reads per nucleotide and not more than 5 reads per nucleotide.
EFFECT: creation of a new method of detecting terminal changes in the number of copies and increasing its accuracy by sequencing the complete human exome and the genome with low coverage and processing the obtained data.
1 cl, 4 dwg, 1 ex
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