公开(公告)号：US20190194758A1

公开(公告)日：2019-06-27

申请号：US16288351

申请日：2019-02-28

Applicant: Natera, Inc.

Inventor： Joshua BABIARZ ,  Tudor Pompiliu CONSTANTIN ,  Lane A. EUBANK ,  George GEMELOS ,  Matthew Micah HILL ,  Huseyin Eser KIRKIZLAR ,  Matthew RABINOWITZ ,  Onur SAKARYA ,  Styrmir SIGURJONSSON ,  Bernhard ZIMMERMANN

IPC: C12Q1/6886 ,  G16B40/00 ,  G16B25/00 ,  G16B15/00 ,  G06N20/00 ,  G06N7/00 ,  G16H50/20 ,  G16H10/40 ,  C12Q1/6869

CPC classification number: C12Q1/6886 ,  C12Q1/6869 ,  C12Q2539/10 ,  C12Q2600/156 ,  C12Q2600/158 ,  C12Q2600/16 ,  C12Q2600/172 ,  G06F19/00 ,  G06N7/005 ,  G06N20/00 ,  G16B15/00 ,  G16B25/00 ,  G16B40/00 ,  G16H10/40 ,  G16H50/20

Abstract: The invention provides methods, systems, and computer readable medium for detecting ploidy of chromosome segments or entire chromosomes, for detecting single nucleotide variants and for detecting both ploidy of chromosome segments and single nucleotide variants. In some aspects, the invention provides methods, systems, and computer readable medium for detecting cancer or a chromosomal abnormality in a gestating fetus.

公开(公告)号：US20190185936A1

公开(公告)日：2019-06-20

申请号：US16288022

申请日：2019-02-27

Applicant: Natera, Inc.

Inventor： Joshua BABIARZ ,  Tudor Pompiliu CONSTANTIN ,  Lane A. EUBANK ,  George GEMELOS ,  Matthew Micah HILL ,  Huseyin Eser KIRKIZLAR ,  Matthew RABINOWITZ ,  Onur SAKARYA ,  Styrmir SIGURJONSSON ,  Bernhard ZIMMERMANN

IPC: C12Q1/6883 ,  C12Q1/6848 ,  C12Q1/6811

CPC classification number: C12Q1/6883 ,  C12Q1/6811 ,  C12Q1/6848 ,  C12Q1/6855 ,  C12Q1/6874 ,  C12Q2600/156 ,  C12Q2527/107 ,  C12Q2537/143

Abstract: The invention provides methods for simultaneously amplifying multiple nucleic acid regions of interest in one reaction volume as well as methods for selecting a library of primers for use in such amplification methods. The invention also provides library of primers with desirable characteristics, such as minimal formation of amplified primer dimers or other non-target amplicons.

公开(公告)号：US20180155786A1

公开(公告)日：2018-06-07

申请号：US15881384

申请日：2018-01-26

Applicant: Natera, Inc.

Inventor： Matthew RABINOWITZ ,  Milena BANJEVIC ,  Zachary DEMKO ,  David JOHNSON ,  Dusan KIJACIC ,  Dimitri PETROV ,  Joshua SWEETKIND-SINGER ,  Jing XU

IPC: C12Q1/6876

CPC classification number: C12Q1/6876 ,  C12Q1/6848 ,  C12Q1/6851 ,  C12Q1/6855 ,  C12Q1/6883 ,  C12Q2600/156 ,  C12Q2600/158 ,  G06F19/18 ,  G06F19/24 ,  G06N7/005 ,  C12Q2525/155 ,  C12Q2535/122 ,  C12Q2537/16

Abstract: 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. 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, 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, the chromosome copy number can be determined from the measured genetic data, with or without genetic information from one or both parents.

公开(公告)号：US20180155785A1

公开(公告)日：2018-06-07

申请号：US15881263

申请日：2018-01-26

Applicant: Natera, Inc.

Inventor： Matthew RABINOWITZ ,  Milena BANJEVIC ,  Zachary DEMKO ,  David JOHNSON ,  Dusan KIJACIC ,  Dimitri PETROV ,  Joshua SWEETKIND-SINGER ,  Jing XU

IPC: C12Q1/6876

CPC classification number: C12Q1/6876 ,  C12Q1/6848 ,  C12Q1/6851 ,  C12Q1/6855 ,  C12Q1/6883 ,  C12Q2600/156 ,  C12Q2600/158 ,  G06N7/005 ,  G16B20/00 ,  G16B40/00 ,  C12Q2525/155 ,  C12Q2535/122 ,  C12Q2537/16

Abstract: 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. 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, 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, the chromosome copy number can be determined from the measured genetic data, with or without genetic information from one or both parents.