公开(公告)号：US20240194293A1

公开(公告)日：2024-06-13

申请号：US18388650

申请日：2023-11-10

申请人： MYRIAD WOMEN'S HEALTH, INC.

发明人： Dale Muzzey ,  Carlo G. Artieri ,  Eric Andrew Evans ,  Imran Saeedul Haque

IPC分类号： G16B20/10 ,  C12Q1/6809 ,  C12Q1/6869 ,  C12Q1/6883 ,  G16B20/00 ,  G16B20/20 ,  G16B30/00 ,  G16B30/10 ,  G16B40/00 ,  G16B40/30

CPC分类号： G16B20/10 ,  C12Q1/6869 ,  C12Q1/6883 ,  G16B20/00 ,  G16B30/00 ,  G16B30/10 ,  G16B40/00 ,  G16B40/30 ,  C12Q1/6809 ,  G16B20/20

摘要： Fetal maternal samples taken from pregnant women include both maternal cell-free DNA and fetal cell-free DNA. Described herein are methods for determining a chromosomal abnormality of a test chromosome or a portion thereof in a fetus by analyzing a test maternal sample of a woman carrying said fetus, wherein the test maternal sample comprises fetal cell-free DNA and maternal cell-free DNA. The chromosomal abnormality can be, for example, aneuploidy or the presence of a microdeletion. In some embodiments, the chromosomal abnormality is determined by measuring a dosage of the test chromosome or portion thereof in the test maternal sample, measuring a fetal fraction of cell-free DNA in the test maternal sample, and determining an initial value of likelihood that the test chromosome or the portion thereof in the fetal cell-free DNA is abnormal based on the measured dosage, an expected dosage of the test chromosome or portion thereof, and the measured fetal fraction.

公开(公告)号：US11854666B2

公开(公告)日：2023-12-26

申请号：US15720351

申请日：2017-09-29

申请人： Myriad Women's Health, Inc.

发明人： Dale Muzzey ,  Carlo G. Artieri ,  Eric Andrew Evans ,  Imran Saeedul Haque

IPC分类号： G16B20/10 ,  G16B20/00 ,  G16B30/00 ,  G16B40/00 ,  G16B30/10 ,  G16B40/30 ,  G16B20/20 ,  C12Q1/6869 ,  C12Q1/6883 ,  C12Q1/6809

CPC分类号： G16B20/10 ,  C12Q1/6869 ,  C12Q1/6883 ,  G16B20/00 ,  G16B30/00 ,  G16B30/10 ,  G16B40/00 ,  G16B40/30 ,  C12Q1/6809 ,  G16B20/20 ,  C12Q1/6869 ,  C12Q2535/122 ,  C12Q2537/165

摘要： Fetal maternal samples taken from pregnant women include both maternal cell-free DNA and fetal cell-free DNA. Described herein are methods for determining a chromosomal abnormality of a test chromosome or a portion thereof in a fetus by analyzing a test maternal sample of a woman carrying said fetus, wherein the test maternal sample comprises fetal cell-free DNA and maternal cell-free DNA. The chromosomal abnormality can be, for example, aneuploidy or the presence of a microdeletion. In some embodiments, the chromosomal abnormality is determined by measuring a dosage of the test chromosome or portion thereof in the test maternal sample, measuring a fetal fraction of cell-free DNA in the test maternal sample, and determining an initial value of likelihood that the test chromosome or the portion thereof in the fetal cell-free DNA is abnormal based on the measured dosage, an expected dosage of the test chromosome or portion thereof, and the measured fetal fraction.

公开(公告)号：US20230416729A1

公开(公告)日：2023-12-28

申请号：US18208770

申请日：2023-06-12

申请人： MYRIAD WOMEN'S HEALTH, INC.

发明人： Eric Andrew Evans ,  Imran Saeedul Haque ,  Kyle Beauchamp ,  Clement Chu ,  Carlo G. Artieri ,  Noah Welker

IPC分类号： C12N15/10 ,  C12Q1/6869 ,  C12N9/12 ,  C12Q1/6806 ,  C12Q1/6832

CPC分类号： C12N15/1093 ,  C12Q1/6869 ,  C12N9/1252 ,  C12Q1/6806 ,  C12Q1/6832 ,  C12N15/10 ,  C12P19/34

摘要： High-fidelity, high-throughput nucleic acid sequencing enables healthcare practitioners and patients to gain insight into genetic variants and potential health risks. However, previous methods of nucleic acid sequencing often introduces sequencing errors (for example, mutations that arise during the preparation of a nucleic acid library, during amplification, or sequencing). Provided herein are sequencing adapters comprising a nondegenerate or variable length molecular barcode and compositions comprising a plurality of sequencing adapters, which can be useful for sequencing nucleic acids. Further provided are methods of using the sequencing adapters, including methods of sequencing nucleic acids, methods of identifying an error in a nucleic acid sequence, and methods of determining the number of nucleic acid molecules in a library.

公开(公告)号：US11708574B2

公开(公告)日：2023-07-25

申请号：US15619078

申请日：2017-06-09

申请人： Myriad Women's Health, Inc.

发明人： Eric Andrew Evans ,  Imran Saeedul Haque ,  Kyle Beauchamp ,  Clement Chu ,  Carlo G. Artieri ,  Noah Welker

IPC分类号： C12N15/10 ,  C12Q1/6869 ,  C12Q1/6806 ,  C12N9/12 ,  C12Q1/6832 ,  C12P19/34

CPC分类号： C12N15/1093 ,  C12N9/1252 ,  C12Q1/6806 ,  C12Q1/6832 ,  C12Q1/6869 ,  C12N15/10 ,  C12P19/34 ,  C12Q2525/191 ,  C12Q2527/107 ,  C12Q2563/179 ,  C12Y207/07007 ,  C12Q1/6869 ,  C12Q2525/191 ,  C12Q2527/107 ,  C12Q2563/185 ,  C12Q1/6832 ,  C12Q2525/191 ,  C12Q2527/107 ,  C12Q2563/185

摘要： High-fidelity, high-throughput nucleic acid sequencing enables healthcare practitioners and patients to gain insight into genetic variants and potential health risks. However, previous methods of nucleic acid sequencing often introduces sequencing errors (for example, mutations that arise during the preparation of a nucleic acid library, during amplification, or sequencing). Provided herein are sequencing adapters comprising a nondegenerate or variable length molecular barcode and compositions comprising a plurality of sequencing adapters, which can be useful for sequencing nucleic acids. Further provided are methods of using the sequencing adapters, including methods of sequencing nucleic acids, methods of identifying an error in a nucleic acid sequence, and methods of determining the number of nucleic acid molecules in a library.