FIELD: calculating; counting.
SUBSTANCE: method and an apparatus for detecting chromosomal structural anomalies have been proposed. Method comprises segmenting a chromosomal sample from a target individual, id est, a plurality of pairs of readings located at the two ends of the chromosomal fragments under study; aligning the result of sequencing with the reference sequence to obtain a set of anomalous correspondences, the set of anomalous correspondences includes pairs of readings that have two read sequences corresponding respectively to different chromosomes of the reference sequence; clustering of sequences of readings in a set of anomalous correspondences on the basis of their corresponding positions; and filtering the resulting clusters using, for example, predetermined requirements related to compactness and other requirements; and obtaining filtered final clusters for determining the presence of a chromosomal structural anomaly of the translocation type.
EFFECT: inventions make it possible to obtain the result of sequencing the entire genome of an individual.
11 cl, 7 dwg, 2 ex
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