公开(公告)号：US20190211402A1

公开(公告)日：2019-07-11

申请号：US16288462

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：US20180300448A1

公开(公告)日：2018-10-18

申请号：US16014903

申请日：2018-06-21

Applicant: Natera, Inc.

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

IPC: G06F19/16 ,  G06Q50/22 ,  C12Q1/6855 ,  G06F19/18 ,  C12Q1/6874

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：US20180298439A1

公开(公告)日：2018-10-18

申请号：US16012667

申请日：2018-06-19

Applicant: Natera, Inc.

Inventor： Allison RYAN ,  Styrmir SIGURJONSSON ,  Milena BANJEVIC ,  George GEMELOS ,  Matthew HILL ,  Johan BANER ,  Matthew RABINOWITZ ,  Zachary DEMKO

IPC: C12Q1/6869 ,  G06F19/14 ,  C12Q1/6876

Abstract: Methods for non-invasive prenatal paternity testing are disclosed herein. The method uses genetic measurements made on plasma taken from a pregnant mother, along with genetic measurements of the alleged father, and genetic measurements of the mother, to determine whether or not the alleged father is the biological father of the fetus. This is accomplished by way of an informatics based method that can compare the genetic fingerprint of the fetal DNA found in maternal plasma to the genetic fingerprint of the alleged father.

公开(公告)号：US20180171420A1

公开(公告)日：2018-06-21

申请号：US15898145

申请日：2018-02-15

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 ,  G16H50/20 ,  G06N99/00 ,  G06F19/24 ,  G06F19/20 ,  G06N7/00

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：US20180155779A1

公开(公告)日：2018-06-07

申请号：US15372279

申请日：2016-12-07

Applicant: Natera, Inc.

Inventor： Bernhard ZIMMERMANN ,  Ryan SWENERTON ,  Matthew RABINOWITZ ,  Styrmir SIGURJONSSON ,  George GEMELOS ,  Apratim GANGULY ,  Himanshu SETHI

IPC: C12Q1/68

CPC classification number: C12Q1/6869 ,  C12Q1/6806 ,  C12Q2525/179 ,  C12Q2535/122 ,  C12Q2563/179 ,  C12Q2537/16

Abstract: The present disclosure provides methods and compositions for sequencing nucleic acid molecules and identifying individual sample nucleic acid molecules using Molecular Index Tags (MITs). Furthermore, reaction mixtures, kits, and adapter libraries are provided.

公开(公告)号：US20240368696A1

公开(公告)日：2024-11-07

申请号：US18685377

申请日：2022-08-24

Applicant: Natera, Inc.

Inventor： Zachary DEMKO ,  Matthew RABINOWITZ ,  George GEMELOS

IPC: C12Q1/6883

Abstract: The present disclosure provides methods for preparing a preparation of amplified DNA derived from a blood sample of a pregnant woman useful for identifying pregnancies having high risks of preterm birth, preeclampsia, small for gestational age, spontaneous termination, and/or non-livebirth, comprising: (a) extracting cell-free DNA from the blood sample; (b) performing targeted multiplex amplification on the extracted DNA to amplify 200-20,000 SNP loci in a single reaction volume; and (c) performing high-throughput sequencing on the amplified DNA to obtain sequence reads and using the sequence reads to determine the ploidy state of the one or more chromosomes of interest; wherein a fetal fraction of less than 2.8% and/or no-call of the ploidy state of the one or more chromosomes of interest is indicative of pregnancies having high risks of preterm birth, preeclampsia, small for gestational age, spontaneous termination, and/or non-livebirth.

公开(公告)号：US20240185957A1

公开(公告)日：2024-06-06

申请号：US18372565

申请日：2023-09-25

Applicant: Natera, Inc.

Inventor： Matthew RABINOWITZ ,  George GEMELOS ,  Milena BANJEVIC ,  Allison RYAN ,  Joshua SWEETKIND-SINGER

IPC: G16B40/00 ,  G06N5/022 ,  G16B20/00 ,  G16B20/10 ,  G16B20/20 ,  G16B20/40 ,  G16B30/00 ,  G16B30/20

CPC classification number: G16B40/00 ,  G06N5/022 ,  G16B20/00 ,  G16B20/10 ,  G16B20/20 ,  G16B20/40 ,  G16B30/00 ,  G16B30/20 ,  C12Q1/6883

Abstract: Disclosed herein is a system and method for making allele calls, and for determining the ploidy state, in one or a small set of cells, or where a limited quantity of genetic data is available. Poorly or incorrectly measured base pairs, missing alleles and missing regions are reconstructed and the haplotypes are determined using expected similarities between the target genome and the knowledge of the genomes of genetically related individuals. In one embodiment, incomplete genetic data from an embryonic cell are reconstructed at a plurality of loci using the genetic data from both parents, and possibly one or more sperm and/or sibling embryos. In another embodiment, the chromosome copy number can be determined using the same input data. In another embodiment, these determinations are made for embryo selection during IVF, for non-invasive prenatal diagnosis, or for making phenotypic predictions.

公开(公告)号：US20230420071A1

公开(公告)日：2023-12-28

申请号：US18243581

申请日：2023-09-07

Applicant: Natera, Inc.

Inventor： Matthew RABINOWITZ ,  George GEMELOS ,  Milena BANJEVIC ,  Allison RYAN ,  Zachary DEMKO ,  Matthew HILL ,  Bernhard ZIMMERMANN ,  Johan BANER

IPC: G16B20/00 ,  C12Q1/6827 ,  C12Q1/6862 ,  C12Q1/686 ,  G16B20/10 ,  G16B20/20 ,  G16B20/40 ,  C12Q1/6883 ,  C12Q1/6869 ,  C12Q1/6806 ,  C12Q1/6874

CPC classification number: G16B20/00 ,  C12Q1/6827 ,  C12Q1/6862 ,  C12Q1/686 ,  G16B20/10 ,  G16B20/20 ,  G16B20/40 ,  C12Q1/6883 ,  C12Q1/6869 ,  C12Q1/6806 ,  C12Q1/6874 ,  G16B40/00

Abstract: The present disclosure provides methods for determining the ploidy status of a chromosome in a gestating fetus from genotypic data measured from a mixed sample of DNA comprising DNA from both the mother of the fetus and from the fetus, and optionally from genotypic data from the mother and father. The ploidy state is determined by using a joint distribution model to create a plurality of expected allele distributions for different possible fetal ploidy states given the parental genotypic data, and comparing the expected allelic distributions to the pattern of measured allelic distributions measured in the mixed sample, and choosing the ploidy state whose expected allelic distribution pattern most closely matches the observed allelic distribution pattern. The mixed sample of DNA may be preferentially enriched at a plurality of polymorphic loci in a way that minimizes the allelic bias, for example using massively multiplexed targeted PCR.

公开(公告)号：US20230368865A1

公开(公告)日：2023-11-16

申请号：US18227224

申请日：2023-07-27

Applicant: Natera, Inc.

Inventor： Matthew RABINOWITZ ,  George GEMELOS ,  Milena BANJEVIC ,  Allison RYAN ,  Zachary DEMKO ,  Matthew HILL ,  Bernhard ZIMMERMANN ,  Johan BANER

IPC: G16B20/00 ,  C12Q1/6827 ,  C12Q1/6862 ,  C12Q1/686 ,  G16B20/10 ,  G16B20/20 ,  G16B20/40 ,  C12Q1/6883 ,  C12Q1/6869 ,  C12Q1/6806 ,  C12Q1/6874

CPC classification number: G16B20/00 ,  C12Q1/6827 ,  C12Q1/6862 ,  C12Q1/686 ,  G16B20/10 ,  G16B20/20 ,  G16B20/40 ,  C12Q1/6883 ,  C12Q1/6869 ,  C12Q1/6806 ,  C12Q1/6874 ,  G16B40/00

Abstract: The present disclosure provides methods for determining the ploidy status of a chromosome in a gestating fetus from genotypic data measured from a mixed sample of DNA comprising DNA from both the mother of the fetus and from the fetus, and optionally from genotypic data from the mother and father. The ploidy state is determined by using a joint distribution model to create a plurality of expected allele distributions for different possible fetal ploidy states given the parental genotypic data, and comparing the expected allelic distributions to the pattern of measured allelic distributions measured in the mixed sample, and choosing the ploidy state whose expected allelic distribution pattern most closely matches the observed allelic distribution pattern. The mixed sample of DNA may be preferentially enriched at a plurality of polymorphic loci in a way that minimizes the allelic bias, for example using massively multiplexed targeted PCR.

公开(公告)号：US20230332221A1

公开(公告)日：2023-10-19

申请号：US18075180

申请日：2022-12-05

Applicant: Natera, Inc.

Inventor： Bernhard ZIMMERMANN ,  Ryan SWENERTON ,  Matthew RABINOWITZ ,  Styrmir SIGURJONSSON ,  George GEMELOS ,  Apratim GANGULY ,  Himanshu SETHI

IPC: C12Q1/6869 ,  C12Q1/6806

CPC classification number: C12Q1/6869 ,  C12Q1/6806 ,  C12Q2563/179 ,  C12Q2535/122 ,  C12Q2525/179

Abstract: The present disclosure provides methods and compositions for sequencing nucleic acid molecules and identifying individual sample nucleic acid molecules using Molecular Index Tags (MITs). Furthermore, reaction mixtures, kits, and adapter libraries are provided.