发明名称 |
METHODS FOR DETERMINING ABSOLUTE GENOME-WIDE COPY NUMBER VARIATIONS OF COMPLEX TUMORS |
摘要 |
Methods for interpreting absolute copy number of complex tumors and for determining the copy number of a genomic region at a detection position of a target sequence in a sample are disclosed. In certain aspects, genomic regions of a target sequence in a sample are sequenced and measurement data for sequence coverage is obtained. Sequence coverage bias is corrected and may be normalized against a baseline sample. Hidden Markov Model (HMM) segmentation, scoring, and output are performed, and in some embodiments population-based no-calling and identification of low-confidence regions may also be performed. A total copy number value and region-specific copy number value for a plurality of regions are then estimated. |
申请公布号 |
EP2844771(A4) |
申请公布日期 |
2015.12.02 |
申请号 |
EP20130784660 |
申请日期 |
2013.05.06 |
申请人 |
COMPLETE GENOMICS, INC. |
发明人 |
HALPERN, AARON;PANT, KRISHNA |
分类号 |
C12Q1/68;G06F19/18;G06F19/22 |
主分类号 |
C12Q1/68 |
代理机构 |
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