Patent · US Active

System and method for cleaning noisy genetic data from target individuals using genetic data from genetically related individuals

US10240202B2 · kind B2 · utility

76Cited by
62References
20Claims
0Family size

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Key dates

Filing dateJun 23, 2016
Grant dateMar 26, 2019
Priority date
Expiry dateDec 18, 2036

Classification

  • Technology area (CPC C)Chemistry; Metallurgy
  • CPC primaryC12Q2600/158
  • WIPO fieldComputer technology
  • WIPO sectorElectrical engineering

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, are disclosed. 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 is acquired from embryonic cells, 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.

Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.