Ariosa Diagnostics, Inc.

Roche Molecular Systems, Inc.

Affymetrix, Inc.

Complete Genomics, Inc.

Ariosa Diagnosis, Inc.

Roche Diagnostics Gmbh

F. Hoffmann-la Roche Ag

Andrew Sparks

Arnold Oliphant

John Stuelpnagel

Ken Song

Craig Struble

Jacob Zahn

Eric Wang

Radoje Drmanac

Glenn K Fu

Keith W Jones

Michael H Shapero

Fredrik Dahl

Matthew J Callow

Clifford Reid

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.

Assay systems for genetic analysis

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

Risk calculation for evaluation of fetal aneuploidy

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.

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

Assay systems for determination of source contribution in a sample

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.

Detection of genetic abnormalities

Methods for detecting genomic rearrangements are provided. In one embodiment, methods are provided for the use of paired end tags from restriction fragments to detect genomic rearrangements. Sequences from the ends of the fragments are brought together to form ditags and the ditags are detected. Combinations of ditags are detected by an on-chip sequencing strategy that is described herein, using inosine for de novo sequencing of short segments of DNA. In another aspect, translocations are identified by using target specific capture and analysis of the captured products on a tiling array.

Array-based translocation and rearrangement assays

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San Jose, CA, United States of America

Andrew Sparks