Systems and methods to detect rare mutations and copy number variation

摘要: The present disclosure provides a system and method for the detection of rare mutations copy number variations in cell free polynucleotides. Generally, systems methods comprise sample preparation, or extraction isolation polynucleotide sequences from bodily fluid; subsequent sequencing polynucleotides by techniques known art; application bioinformatics tools to detect as compared reference. also may contain database collection different variation profiles diseases, be used additional references aiding mutations, profiling general genetic disease.