Ariosa Diagnostics, Inc.

Roche Molecular Systems, Inc.

Roche Diagnostics Gmbh

F. Hoffmann-la Roche Ag

John Stuelpnagel

Arnold Oliphant

Ken Song

Andrew Sparks

Craig Struble

Jacob Zahn

Eric Wang

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.

Processes for calculating phased fetal genomic sequences

The present invention provides assays systems and methods for detection of chromosomal abnormalities and status of single loci associated with monogenic or polygenic traits in a sample containing nucleic acids from a maternal and a fetal source.

Assay systems for genetic analysis

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.

Determination of copy number variations using binomial probability calculations

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.

The present invention provides processes for determining accurate risk probabilities for chromosome dosage abnormalities. Specifically, the invention provides non-invasive evaluation of genomic variations through chromosome-selective sequencing and non-host fraction data analysis of maternal samples.

Assay systems for determination of fetal copy number variation

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&#x2014;, 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&#x2014;combined with detection of levels of particular genomic regions using array hybridization.

Ligation-based detection of genetic variants

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.

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San Jose, CA, United States of America

John Stuelpnagel