Abstract: The present invention provides multiplexed sequential ligation-based analysis of genetic variants in a mixed sample, including copy number variations and single nucleotide polymorphisms. The invention employs the techniques of sequential ligation and amplification.
Type:
Grant
Filed:
December 7, 2015
Date of Patent:
April 18, 2017
Assignee:
Ariosa Diagnostics, Inc.
Inventors:
Jacob Zahn, Arnold Oliphant, Morassa Mohseni
Abstract: The present invention provides detection systems and methods for detection of loci and genomic regions in a sample, including mixed samples, using hybridization to an array.
Type:
Grant
Filed:
August 6, 2014
Date of Patent:
February 14, 2017
Assignee:
Ariosa Diagnostics, Inc.
Inventors:
Arnold Oliphant, Jacob Zahn, Kara Juneau, Patrick Bogard, Stephanie Huang
Abstract: The present invention provides multiplexed sequential ligation-based analysis of genetic variants in a mixed sample, including copy number variations and single nucleotide polymorphisms. The invention employs the techniques of sequential ligation and amplification.
Type:
Grant
Filed:
July 19, 2013
Date of Patent:
December 8, 2015
Assignee:
ARIOSA DIAGNOSTICS, INC.
Inventors:
Jacob Zahn, Arnold Oliphant, Morassa Mohseni
Abstract: The present invention provides methods for non-invasive determination of sex in a fetus or of Y chromosomal frequency abnormalities—indicative of aneuploidy or sex mosaicisms in a fetus—by detecting and determining the relative contribution genetic sequences from the Y chromosome in view of the percent fetal contribution in a maternal mixed sample.
Type:
Application
Filed:
March 8, 2013
Publication date:
September 11, 2014
Applicant:
ARIOSA DIAGNOSTICS, INC.
Inventors:
Craig Struble, Arnold Oliphant, Eric Wang
Abstract: The present invention provides assays systems and methods for detection of genetic variants in a sample, including copy number variation and single nucleotide polymorphisms. The invention preferably employs the technique of tandem ligation, i.e. the ligation of two or more fixed sequence oligonucleotides and one or more bridging oligonucleotides complementary to a region between the fixed sequence oligonucleotides combined with digital PCR detection.
Abstract: This invention relates to a binomial calculation of copy number of data obtained from a mixed sample having a first source and a second source.
Abstract: This invention relates to a binomial calculation of copy number of data obtained from a mixed sample having a first source and a second source.
Abstract: The present invention provides processes for determining more accurate risk probabilities for medical conditions. The risk probabilities of the presence or absence of a medical condition are calculated using frequency data from selected biomolecules and biomolecule source contribution of at least one source in a mixed sample.
Type:
Grant
Filed:
October 15, 2011
Date of Patent:
June 17, 2014
Assignee:
Ariosa Diagnostics, Inc.
Inventors:
Craig Struble, Eric Wang, Andrew Sparks, Arnold Oliphant
Abstract: This invention relates to a binomial calculation of copy number of data obtained from a mixed sample having a first source and a second source.
Abstract: The invention provides processes of the present invention provide normalization procedures for sequences within multiplexed data sets using the sequence information from multiplexed sequencing data set itself rather than the utilization of any external references.
Abstract: The present invention provides multiplexed sequential ligation-based analysis of genetic variants in a mixed sample, including copy number variations and single nucleotide polymorphisms. The invention employs the techniques of sequential ligation and amplification.
Type:
Application
Filed:
July 19, 2013
Publication date:
January 23, 2014
Applicant:
Ariosa Diagnostics, Inc.
Inventors:
Jacob Zahn, Arnold Oliphant, Morassa Mohseni
Abstract: The present invention provides processes for calculating phased genomic sequences of the fetal genome using fetal DNA obtained from a maternal sample. The processes and systems of the present invention utilize novel technological and computational approaches to detect fetal genomic sequences and determine the phased heritable genomic sequences. The invention could be used, e.g., to identify in utero deleterious mutations carried by the parents and inherited by a fetus within a particular heritable genomic region.
Type:
Application
Filed:
May 20, 2013
Publication date:
November 21, 2013
Applicant:
Ariosa Diagnostics, Inc.
Inventors:
John Stuelpnagel, Craig Struble, Eric Wang
Abstract: The present invention provides assays systems and methods for detection of genetic variants in a sample, including copy number variation and single nucleotide polymorphisms. The invention preferably employs the technique of tandem ligation—e.g., the ligation of two or more fixed sequence oligonucleotides and one or more bridging oligonucleotides complementary to a region between the fixed sequence oligonucleotides—combined with detection of levels of particular genomic regions using array hybridization.
Type:
Application
Filed:
March 15, 2013
Publication date:
October 3, 2013
Applicant:
Ariosa Diagnostics, In.
Inventors:
Arnold Oliphant, Andrew Sparks, John Stuelpnagel, Ken Song
Abstract: The present invention provides assay systems and methods for detection of copy number variation at one or more loci and polymorphism detection at one or more loci in a mixed sample from an individual.
Abstract: The present invention provides assay systems and methods for determining the percent fetal contribution of cell-free DNA in a maternal sample from a pregnant female with an egg donor pregnancy. Further provided, are assay systems and methods for determining a statistical likelihood of the presence or absence of a fetal aneuploidy in a maternal sample using a determined percent fetal cell-free DNA in the sample.
Abstract: The present invention provides assays systems and methods for detection of genetic variants in a sample, including copy number variation and single nucleotide polymorphisms. The invention preferably employs the technique of tandem ligation, i.e. the ligation of two or more fixed sequence oligonucleotides and one or more bridging oligonucleotides complementary to a region between the fixed sequence oligonucleotides.
Abstract: The present invention provides assays systems and methods for detection of genetic variants in a sample, including copy number variation and single nucleotide polymorphisms. The invention preferably employs the technique of tandem ligation, i.e. the ligation of two or more fixed sequence oligonucleotides and one or more bridging oligonucleotides complementary to a region between the fixed sequence oligonucleotides.
Abstract: The present invention provides assays systems and methods for detection of genetic variants in a sample, including copy number variation and single nucleotide polymorphisms. The invention preferably employs the technique of tandem ligation, i.e. the ligation of two or more fixed sequence oligonucleotides and one or more bridging oligonucleotides complementary to a region between the fixed sequence oligonucleotides.
Abstract: The present invention provides assay systems and related methods for determining genetic abnormalities in mixed samples comprising cell free DNA from both normal and putative genetically atypical cells. Exemplary mixed samples for analysis using the assay systems of the invention include samples comprising both maternal and fetal cell free DNA and samples that contain DNA from normal cells and circulating cancerous cells.