SYSTEMS AND METHODS FOR IDENTIFYING SEQUENCE VARIATION
摘要
Abstract Systems and method for determining variants can receive mapped reads, and call variants. In embodiments, flow space information for the reads can be aligned to a flow space representation of a corresponding portion of the reference. Reads spanning a position with a potential variant can be grouped and a score can be calculated for the variant. Based on the scores, a list of probable variants can be provided. In various embodiments, low frequency variants can be identified where multiple potential variants are present at a position.
申请公布号
WO2013043909(A1)
申请公布日期
2013.03.28
申请号
WO2012US56397
申请日期
2012.09.20
申请人
LIFE TECHNOLOGIES CORPORATION;HYLAND, FIONA;TSUNG, ERIC;TADIGOTLA, VASISHT;ZHANG, ZHENG;BRINZA, DUMITRU;SAKARYA, ONUR;XU, XING