METHOD, APPARATUS AND PROGRAM FOR ESTIMATING BASE TYPE IN BASE SEQUENCE

摘要

Provided are a method, apparatus and program for estimating base type in a base sequence. This method involves the following steps: acquiring a lead sequence derived from each nucleic acid molecule (S11); mapping the acquired lead sequence on a reference sequence (S12); classifying the lead sequence on the basis of mapping results (S13); determining a reliability score corresponding to the consensus lead and each base in the consensus lead, on the basis of the classification results (S14); arbitrarily selecting a base type at the specific position from the consensus lead, acquiring the number of consensus leads containing each base at the selected position, with respect to the total number of consensus leads, constructing an error model according to a parametric error model using a reliability score corresponding to the base type at the selected specific position (S15); estimating the incidence according to analysis error for the base type at the specific positon with the set reliability, and estimating, on the basis of incidence, whether the specific base type at the specific position is present in the clonal nucleic acid mixture at the set reliability (S16).