发明名称 |
DETERMINING THE CLINICAL SIGNIFICANCE OF VARIANT SEQUENCES |
摘要 |
The present invention generally relates to determining the clinical significance of a variant nucleic acid sequence. The invention can involve sequencing a nucleic acid to generate at least one sequence read, identifying a variant sequence within the sequence read, determining the equivalent indel region (EIR) of the variant sequence, identifying a functional region including at least a portion of the EIR, and associating the EIR with the identified functional region, thereby to determine the clinical significance of the variant. |
申请公布号 |
CA2875993(A1) |
申请公布日期 |
2013.12.12 |
申请号 |
CA20132875993 |
申请日期 |
2013.06.04 |
申请人 |
GOOD START GENETICS, INC. |
发明人 |
KENNEDY, CALEB J.;UMBARGER, MARK;PORRECA, GREGORY |
分类号 |
G06F19/22;C12Q1/68 |
主分类号 |
G06F19/22 |
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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