Method for determining tumor gene copy number by analysis of acellular DNA

摘要

Problem to be solved: to provide an improved method for detecting a copy number mutation in a tumor cell derived from a cell free body fluid.In one aspect, (a) obtaining an array determining lead of DNA molecules in a cell free body fluid sample of a subject;(b) from the array leadGenerating a first dataset containing quantitative scales associated with sequencing lead coverage ("lead coverage") for each locus at multiple loci and(c) by performing saturated equilibrium correction and probe efficiency correctionCorrecting the first data set and(d) determining baseline lead coverage for the first data set;Baseline lead coverageRelating to saturation equilibrium and probe efficiencyAndProblem to be solved: to provide a method including determining the number of copies per locus in a plurality of loci compared to (E) baseline lead coverage.Selection diagram