发明名称 |
DETERMINING VARIANTS IN GENOME OF A HETEROGENEOUS SAMPLE |
摘要 |
After DNA fragments are sequenced and mapped to a reference, various hypotheses for the sequences in a variant region can be scored to find which sequence hypotheses are more likely. A hypothesis can include a specific variable fraction for the plurality of alleles that comprise the sequence hypothesis in the region. A likelihood of each hypothesis can be determined using a probability that accounts for the fraction of the alleles specified in the respective sequence hypothesis. Thus, other hypotheses besides standard homozygous and equal heterozygous (i.e., one chromosome with A and one with B in a cell) can be explored by explicitly including the variable fractions of the alleles as a parameter in the optimization. Also, a variant score can be determined for a variant relative to a reference. The variant score can be used to determine a variant calibrated score indicating a likelihood that the variant call is correct.
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申请公布号 |
US2013110407(A1) |
申请公布日期 |
2013.05.02 |
申请号 |
US201213621716 |
申请日期 |
2012.09.17 |
申请人 |
BACCASH JONATHAN;HALPERN AARON;TIAN CHAO;PANT KRISHNA;CARNEVALI PAOLO;COMPLETE GENOMICS, INC. |
发明人 |
BACCASH JONATHAN;HALPERN AARON;TIAN CHAO;PANT KRISHNA;CARNEVALI PAOLO |
分类号 |
G06F17/18 |
主分类号 |
G06F17/18 |
代理机构 |
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代理人 |
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主权项 |
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地址 |
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