Somatic cell variation invocation from unmatched biological samples

• Main Authors: HARRIS JASON, JUNGNER, PATRICK, PHILLIPS NICHOLAS
• Format: Patent
• Language: Chinese; English
• Published: 01.11.2022
• Subjects: CALCULATING; COMPUTER SYSTEMS BASED ON SPECIFIC COMPUTATIONAL MODELS; COMPUTING; COUNTING; HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATIONTECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING ORPROCESSING OF MEDICAL OR HEALTHCARE DATA; INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTEDFOR SPECIFIC APPLICATION FIELDS; PHYSICS

Methods of somatic variation invocation from unmatched biological samples are provided. A method may include obtaining nucleic acid sequence data corresponding to a biological sample of a subject. The method may also include aligning the nucleic acid sequence data to a reference genome. The method may also include identifying a set of candidate variations in the nucleic acid sequence data based on the aligned nucleic acid sequence data. The set of candidate variants may include one or more somatic variants and one or more germline variants. The method may also include processing the set of candidate variations using the trained machine learning model to identify somatic variations without using nucleic acid sequencing data from a matching biological sample of the subject. The method may also include outputting a report identifying the somatic variation. 提供了来自不匹配的生物样品的体细胞变异调用的方法。方法可以包括获得对应于对象的生物样品的核酸序列数据。方法还可以包括将核酸序列数据与参考基因组比对。方法还可以包括基于比对的核酸序列数据鉴定所述核酸序列数据中的一组候选变异。该组候选变异可以包括一种或多种体细胞变异和一种或多种生殖系变异。方法还可以包括在不使用来自对象