COMPOSITIONS AND METHODS FOR DETECTING RARE SEQUENCE VARIANTS

• Main Authors: SUN ZHAOHUI, LIN SHENGRONG, TANG PAUL LING FUNG, ZHAO GRACE QIZHI
• Format: Patent
• Language: English; Korean
• Published: 19.05.2022
• 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

일부 양태에서, 본 개시내용은 핵산 샘플에서 서열 변이를 확인하는 방법을 제공한다. 일부 구현예에서, 방법은 시퀀싱 리드와 참조 서열 간의 서열 차이를 확인하는 단계, 및 적어도 2개의 상이한 원형 폴리뉴클레오타이드, 예컨대 상이한 접합부를 갖는 2개의 원형 폴리뉴클레오타이드에서 발생하는 서열 차이를 서열 변이로서 판정하는 단계를 포함한다. 일부 양태에서, 본 개시내용은 상기 기재된 방법에서 유용한 조성물 및 시스템을 제공한다. In some aspects, the present disclosure provides methods for identifying sequence variants in a nucleic acid sample. In some embodiments, a method comprises identifying sequence differences between sequencing reads and a reference sequence, and calling a sequence difference that occurs in at least two different circular polynucleotides, such as two circular polynucleotides having different junctions, as the sequence variant. In some aspects, the present disclosure provides compositions and systems useful in the described methods.