公开(公告)号：US20080243398A1

公开(公告)日：2008-10-02

申请号：US12076348

申请日：2008-03-17

申请人： Matthew Rabinowitz ,  Milena Banjevic ,  Zachary Demko ,  David Scott Johnson ,  Dusan Kijacic ,  Dimitri Petrov ,  Josh Sweetkind-Singer ,  Jing Xu

发明人： Matthew Rabinowitz ,  Milena Banjevic ,  Zachary Demko ,  David Scott Johnson ,  Dusan Kijacic ,  Dimitri Petrov ,  Josh Sweetkind-Singer ,  Jing Xu

IPC分类号： G01N33/48

CPC分类号： G06F19/16 ,  C12Q1/6855 ,  C12Q1/6874 ,  G06F19/18 ,  G06F19/24 ,  G06Q50/22

摘要： Disclosed herein is a system and method for increasing the fidelity of measured genetic data, for making allele calls, and for determining the state of aneuploidy, in one or a small set of cells, or from fragmentary DNA, where a limited quantity of genetic data is available. Genetic material from the target individual is acquired, amplified and the genetic data is measured using known methods. Poorly or incorrectly measured base pairs, missing alleles and missing regions are reconstructed using expected similarities between the target genome and the genome of genetically related individuals. In accordance with one embodiment of the invention, incomplete genetic data from an embryonic cell are reconstructed at a plurality of loci using the more complete genetic data from a larger sample of diploid cells from one or both parents, with or without haploid genetic data from one or both parents. In another embodiment of the invention, the chromosome copy number can be determined from the measured genetic data of a single or small number of cells, with or without genetic information from one or both parents. In another embodiment of the invention, these determinations are made for the purpose of embryo selection in the context of in-vitro fertilization. In another embodiment of the invention, the genetic data can be reconstructed for the purposes of making phenotypic predictions.

摘要翻译： 本文公开了一种系统和方法，用于增加测量的遗传数据的保真度，进行等位基因调用，并确定在一组或一组细胞中或从片段DNA中确定非整倍体的状态，其中有限数量的遗传数据 是可用的 获取，扩增来自目标个体的遗传物质，并使用已知方法测量遗传数据。 使用目标基因组与遗传相关个体的基因组之间的预期相似性来重建差或不正确测量的碱基对，缺失的等位基因和缺失区域。 根据本发明的一个实施方案，使用来自一个或两个亲本的二倍体细胞的较大样本的更完整的遗传数据，在多个基因座重建来自胚胎细胞的不完全遗传数据，具有或不具有来自一个的单倍体遗传数据 或双亲。 在本发明的另一个实施方案中，染色体拷贝数可以从单个或少数细胞的测量的遗传数据确定，具有或不具有来自一个或两个亲本的遗传信息。 在本发明的另一个实施方案中，这些确定是为了在体外受精的背景下进行胚胎选择的目的。 在本发明的另一个实施方案中，为了进行表型预测的目的，可以重建遗传数据。

公开(公告)号：US08515679B2

公开(公告)日：2013-08-20

申请号：US12076348

申请日：2008-03-17

申请人： Matthew Rabinowitz ,  Milena Banjevic ,  Zachary Demko ,  David Scott Johnson ,  Dusan Kijacic ,  Dimitri Petrov ,  Josh Sweetkind-Singer ,  Jing Xu

发明人： Matthew Rabinowitz ,  Milena Banjevic ,  Zachary Demko ,  David Scott Johnson ,  Dusan Kijacic ,  Dimitri Petrov ,  Josh Sweetkind-Singer ,  Jing Xu

IPC分类号： G01N33/48 ,  G01N31/00 ,  G06G7/48 ,  G06G7/58

CPC分类号： G06F19/16 ,  C12Q1/6855 ,  C12Q1/6874 ,  G06F19/18 ,  G06F19/24 ,  G06Q50/22

摘要： Disclosed herein is a system and method for increasing the fidelity of measured genetic data, for making allele calls, and for determining the state of aneuploidy, in one or a small set of cells, or from fragmentary DNA, where a limited quantity of genetic data is available. Genetic material from the target individual is acquired, amplified and the genetic data is measured using known methods. Poorly or incorrectly measured base pairs, missing alleles and missing regions are reconstructed using expected similarities between the target genome and the genome of genetically related individuals. In accordance with one embodiment of the invention, incomplete genetic data from an embryonic cell are reconstructed at a plurality of loci using the more complete genetic data from a larger sample of diploid cells from one or both parents, with or without haploid genetic data from one or both parents. In another embodiment of the invention, the chromosome copy number can be determined from the measured genetic data of a single or small number of cells, with or without genetic information from one or both parents. In another embodiment of the invention, these determinations are made for the purpose of embryo selection in the context of in-vitro fertilization. In another embodiment of the invention, the genetic data can be reconstructed for the purposes of making phenotypic predictions.

摘要翻译： 本文公开了一种系统和方法，用于增加测量的遗传数据的保真度，进行等位基因调用，并确定在一组或一组细胞中或从片段DNA中确定非整倍体的状态，其中有限数量的遗传数据 是可用的 获取，扩增来自目标个体的遗传物质，并使用已知方法测量遗传数据。 使用目标基因组与遗传相关个体的基因组之间的预期相似性来重建差或不正确测量的碱基对，缺失的等位基因和缺失区域。 根据本发明的一个实施方案，使用来自一个或两个亲本的二倍体细胞的较大样本的更完整的遗传数据，在多个基因座重建来自胚胎细胞的不完全遗传数据，具有或不具有来自一个的单倍体遗传数据 或双亲。 在本发明的另一个实施方案中，染色体拷贝数可以从单个或少数细胞的测量的遗传数据确定，具有或不具有来自一个或两个亲本的遗传信息。 在本发明的另一个实施方案中，这些确定是为了在体外受精的背景下进行胚胎选择的目的。 在本发明的另一个实施方案中，为了进行表型预测的目的，可以重建遗传数据。