Natera, Inc.

Naresh Vankayalapati

Styrmir Sigurjonsson

Allison Ryan

Bernhard Zimmermann

Huseyin Eser Kirkizlar

Raheleh Salari

Zachary Demko

Milena Banjevic

Provided herein are improved methods for detecting aneuploidy in a sample. The methods in certain embodiments are used for the analysis of circulating DNA in serum samples, such as circulating fetal DNA or circulating tumor DNA. In certain embodiments, chromosome or chromosome segments of interest are used to set a bias model and/or a control value for a z-score determination, in illustrative examples without the use of a control chromosome.

Systems and methods for detection of aneuploidy

The invention provides improved methods, compositions, and kits for detecting ploidy of chromosome regions, e.g. for detecting cancer or a chromosomal abnormality in a gestating fetus. The methods can utilize a set of more than 200 SNPs that are found within haploblocks and can include analyzing a series of target chromosomal regions related to cancer or a chromosomal abnormality in a gestating fetus. Finally the method may use knowledge about chromosome crossover locations or a best fit algorithm for the analysis. The compositions may comprise more than 200 primers located within haplotype blocks known to show CNV.

Methods and compositions for determining ploidy

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San Francisco, CA, United States of America

Naresh Vankayalapati