发明名称 |
METHODS FOR ALLELE CALLING AND PLOIDY CALLING |
摘要 |
Disclosed herein is a system and method for making allele calls, and for determining the ploidy state, in one or a small set of cells, or where a limited quantity of genetic data is available. Poorly or incorrectly measured base pairs, missing alleles and missing regions are reconstructed and the haplotypes are determined using expected similarities between the target genome and the knowledge of the genomes of genetically related individuals. In one embodiment, incomplete genetic data from an embryonic cell are reconstructed at a plurality of loci using the genetic data from both parents, and possibly one or more sperm and/or sibling embryos. In another embodiment, the chromosome copy number can be determined using the same input data. In another embodiment, these determinations are made for embryo selection during IVF, for non-invasive prenatal diagnosis, or for making phenotypic predictions. |
申请公布号 |
EP2321642(A4) |
申请公布日期 |
2011.11.30 |
申请号 |
EP20090805452 |
申请日期 |
2009.08.04 |
申请人 |
GENE SECURITY NETWORK, INC. |
发明人 |
RABINOWITZ, MATTHEW;GEMELOS, GEORGE;BANJEVIC, MILENA;RYAN, ALLISON;SWEETKIND-SINGER, JOSHUA |
分类号 |
G01N33/483;C12Q1/68;G06F19/00 |
主分类号 |
G01N33/483 |
代理机构 |
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地址 |
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