SYSTEMS AND METHODS FOR ANALYZING NUCLEIC ACID

• Main Authors: VELCULESCU VICTOR, JONES SIAN, ANGIUOLI SAMUEL VINCENT, DIAZ LUIS
• Format: Patent
• Language: Chinese; English
• Published: 02.03.2018
• Subjects: BEER; BIOCHEMISTRY; CHEMISTRY; COMPOSITIONS OR TEST PAPERS THEREFOR; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES; ENZYMOLOGY; INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTEDFOR SPECIFIC APPLICATION FIELDS; MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS; METALLURGY; MICROBIOLOGY; MUTATION OR GENETIC ENGINEERING; PHYSICS; PROCESSES OF PREPARING SUCH COMPOSITIONS; SPIRITS; VINEGAR; WINE

Increased sensitivity and specificity of characterizing patient-specific variations as mutations that are indicative of a cancer or other disease by identifying patient-specific tumor mutations by comparing tumor and normal sequence reads from the patient and filtering for mutations that are unique to the tumor. By comparing tumor sequence to a normal sequence from the same patient, false-positivemutation calls are minimized in the analysis. 通过比较来自患者的肿瘤和正常序列读取以及筛选肿瘤特有的突变来鉴定患者特异性肿瘤突变，从而提高将患者特异性变异表征为指示癌症或其它疾病的突变的灵敏性和特异性。通过将肿瘤序列与来自同患者的正常序列进行比较，在分析中假阳性突变出现被降至最低。