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：US20180148777A1

公开(公告)日：2018-05-31

申请号：US15573800

申请日：2016-05-10

Applicant: Natera, Inc.

Inventor： Huseyin Eser KIRKIZLAR ,  Raheleh SALARI ,  Styrmir SIGURJONSSON ,  Bernhard ZIMMERMANN ,  Allison RYAN ,  Naresh VANKAYALAPATI

IPC: C12Q1/6858 ,  C12Q1/6869 ,  C12Q1/6886 ,  G06F19/18 ,  G16H10/40

CPC classification number: C12Q1/6858 ,  C12Q1/6869 ,  C12Q1/6886 ,  C12Q2539/10 ,  C12Q2600/106 ,  C12Q2600/156 ,  G16B20/00 ,  G16H10/40 ,  Y02A90/26

Abstract: The invention provides improved methods, compositions, and kits for detecting ploidy of chromosome regions, e.g. for detecting cancer or a chromosomal abnormality in a gestating fetus. The methods can utilize a set of more than 200 SNPs that are found within haploblocks and can include analyzing a series of target chromosomal regions related to cancer or a chromosomal abnormality in a gestating fetus. Finally the method may use knowledge about chromosome crossover locations or a best fit algorithm for the analysis. The compositions may comprise more than 200 primers located within haplotype blocks known to show CNV.