METHOD FOR SIMULTANEOUS DETECTION OF GENOME-WIDE COPY NUMBER CHANGES, cnLOH, INDELS, AND GENE MUTATIONS

摘要

Methods provided herein is used for while identifying genome copies number variation (CNVs) and sequence variation enrichment genomic samples and composition, system and kit for executing such method. In terms of some, this method includes: (one) obtains multiple sequences and reads and be enriched with genomic samples, therefore including the object in multiple genome backbone area and multiple genome-mutation genome area-of-interests; (2) multiple sequences are obtained to read from least one of corresponding genome backbone area and genome-mutation region with reference to genomic samples; (3) multiple sequences readings are assembled and refer to genomic samples at least one from the genomic samples of enrichment; D is determined, is analyzed according to calculating, and whether which has a genome copies number variation (CNV) and/or sequence variation. The disclosure further includes aspect, and wherein the method is performed by computer, provides a user output identification genome C NV and/or sequence variation.