Invention Grant
- Patent Title: Method for determining the number of copies of a chromosome in the genome of a target individual using genetic data from genetically related individuals
- Patent Title (中): 使用遗传相关个体的遗传数据确定目标个体基因组染色体拷贝数的方法
-
Application No.: US11603406Application Date: 2006-11-22
-
Publication No.: US08532930B2Publication Date: 2013-09-10
- Inventor: Matthew Rabinowitz , Milena Banjevic , Zachary Paul Demko , David Scott Johnson
- Applicant: Matthew Rabinowitz , Milena Banjevic , Zachary Paul Demko , David Scott Johnson
- Applicant Address: US CA San Carlos
- Assignee: Natera, Inc.
- Current Assignee: Natera, Inc.
- Current Assignee Address: US CA San Carlos
- Agent Zachary P. Demko; Scott R. Bortner; Vicki L. Healy
- Main IPC: G01N33/48
- IPC: G01N33/48 ; G01N31/00 ; G06G7/48 ; G06G7/58

Abstract:
A system and method for determining the genetic data for one or a small set of cells, or from fragmentary DNA, where a limited quantity of genetic data is available. Genetic data for the target individual is acquired and amplified using known methods, and poorly measured base pairs, missing alleles and missing regions are reconstructed using expected similarities between the target genome and the genome of genetically related subjects. In accordance with one embodiment of the invention, incomplete genetic data from an embryonic cell is reconstructed using the more complete genetic data from a larger sample of diploid cells from one or both parents, with or without genetic data from haploid cells from one or both parents, and/or genetic data taken from other related individuals. In accordance with another embodiment of the invention, incomplete genetic data from a fetus is acquired from fetal cells, or cell-free fetal DNA isolated from the mother's blood, and the incomplete genetic data is reconstructed using the more complete genetic data from a larger sample diploid cells from one or both parents, with or without genetic data from haploid cells from one or both parents, and/or genetic data taken from other related individuals. In one embodiment, the genetic data can be reconstructed for the purposes of making phenotypic predictions. In another embodiment, the genetic data can be used to detect for aneuploides and uniparental disomy.
Public/Granted literature
Information query