Sequenom, Inc.

Illumina Corporation

Cosmin Deciu

Zeljko Dzakula

Sung Kyun Kim

Mathias Ehrich

Amin R Mazloom

Chen Zhao

Taylor Jacob Jensen

Dirk Johannes Van Den Boom

Gregory Hannum

Jennifer Geis

Amin Mazloom

John Allen Tynan

Yong Qing Chen

Grant Hogg

Lin Tang

Sung K Kim

Huiquan Wang

Roger Chan Tim

Ron Michael McCullough

Guy Del Mistro

Charles Cantor

Tong Liu

Sarah L Kinnings

Yijin Wu

Dimitri Skvortsov

Badri Padhukasahasram

Charles R Cantor

Ron Michael Mccullough

Zelijko Dzakula

Provided herein are methods, processes and apparatuses for non-invasive assessment of genetic variations.

Methods and processes for non-invasive analysis of cell-free fetal nucleic acid according to sequence read quantifications for chromosomes 13, 18, and 21

Technology provided herein relates in part to methods, processes and apparatuses for non-invasive assessment of genetic variations.

Methods and processes for non-invasive assessment of genetic variations

Provided in part herein are methods and processes that can be used for non-invasive assessment of a genetic variation which can lead to diagnosis of a particular medical condition or conditions. Such methods and processes can, for example, identify dissimilarities or similarities for one or more features between a subject data set and a reference data set, generate a multidimensional matrix, reduce the matrix into a representation and classify the representation into one or more groups. Methods and processes described herein are applicable to data in biotechnology and other fields.

Methods and processes for non-invasive estimation of fetal fraction

Provided are methods and systems for sample quality control in CNV detection using test samples comprising cell-free nucleic acid fragments originating from a mother and a fetus. The method involves determining an exclusion region defined by at least a fetal fraction limit of detection (LOD) curve. The fetal fraction LOD curve varies with coverage values and indicates minimum values of fetal fractions needed to achieve a detection criterion given different coverages.

Limit of detection based quality control metric

Methods for non-invasive assessment of genetic variations that make use of nucleic acid fragment length information, in particular length of fragments in circulating cell-free nucleic acids and compares the number of counts from fragments with different length.

Methods for non-invasive assessment of fetal genetic variations that factor experimental conditions

Provided herein are methods for determining fetal ploidy according to nucleic acid sequence reads. Nucleic acid sequence reads may be obtained from test sample nucleic acid comprising circulating cell-free nucleic acid from the blood of a pregnant female bearing a fetus. Fetal ploidy may be determined according to genomic section levels and a fraction of fetal nucleic acid in a test sample.

Provided herein are methods, processes and apparatuses for non-invasive assessment of genetic variations that make use of decision analyses. The decision analyses sometimes include segmentation analyses and/or odds ratio analyses.

Methods and processes for non-invasive detection of a microduplication or a microdeletion with reduced sequence read count error

Technology provided herein relates in part to methods, processes and apparatuses for non-invasive assessment of genetic variations. In particular the invention relates to methods and kits for detecting aneuploidy of a fetal chromosome by determining the amounts of differentially methylated regions in each of chromosomes 13, 18 and 21 in circulating cell-free nucleic acid from a human pregnant female.

Technology provided herein relates in part to methods, processes, compositions and apparatuses for analyzing nucleic acid.

Methods and compositions for analyzing nucleic acid

Technology provided herein relates in part to non-invasive classification of one or more genetic copy number alterations (CNAs) for a test sample. Certain methods include sampling a quantification of sequence reads from parts of a genome, generating a confidence determination, and using the confidence determination to enhance classification. Technology provided herein is useful for classifying a genetic CNA for a sample as part of non-invasive pre-natal (NIPT) testing and oncology testing, for example.

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San Diego, CA, United States of America

Cosmin Deciu