发明名称 |
METHOD AND APPARATUS FOR CALLING SINGLE-NUCLEOTIDE VARIATIONS AND OTHER VARIATIONS |
摘要 |
Base calls for a target sequence may be identified relative to a reference sequence by using values from sequencing reads at locations satisfying a high-confidence condition to identify base calls at a given location not satisfying the high-confidence condition. The high-confidence condition may relate to the level of coverage by the sequencing reads at a location of the reference sequence. The quality of measurements of the sequencing reads may be incorporated into the base-call process. |
申请公布号 |
US2016026757(A1) |
申请公布日期 |
2016.01.28 |
申请号 |
US201414358643 |
申请日期 |
2014.02.13 |
申请人 |
ACCURASCIENCE ,LLC |
发明人 |
LI Tongbin;GONG Wuming;RAO Jiang |
分类号 |
G06F19/22;G06F19/24 |
主分类号 |
G06F19/22 |
代理机构 |
|
代理人 |
|
主权项 |
1. A method of identifying at least one base call for a target sequence, the method comprising:
accessing the reference sequence, the reference sequence including a plurality of base values that define the reference sequence; accessing a plurality of sequencing reads, each sequencing read including a plurality of base values for a corresponding portion of the target sequence; identifying a plurality of high-confidence locations in the sequencing reads, a high-confidence location being identified with a corresponding location in the reference sequence and satisfying a high-confidence condition for using base values of the sequencing reads at the high-confidence location to identify one or more base calls for the target sequence at the high-confidence location; and identifying one or more base calls for the target sequence at a given location not satisfying the high-confidence condition by using base values of the sequencing reads at the high-confidence locations with base values of the sequencing reads at the given location and a base value of the reference sequence at the given location to identify the one or more base calls for the target sequence at the given location. |
地址 |
Johnston IA US |