Sequenom, Inc.

Bionano Genomics, Inc.

10x Genomics, Inc.

Zeljko Dzakula

Cosmin Deciu

Mathias Ehrich

Sung Kyun Kim

Amin R Mazloom

Chen Zhao

Dirk Johannes Van Den Boom

Taylor Jacob Jensen

Gregory Hannum

John Allen Tynan

Grant Hogg

Huiquan Wang

Amin Mazloom

Charles Cantor

Michael Schnall-Levin

Rajiv Bharadwaj

Andrew D Price

Zahra Kamila Belhocine

Yifeng Yin

Vijay Kumar Sreenivasa Gopalan

Lin Tang

Charles R Cantor

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

Methods and processes for non-invasive assessment of genetic variations

Methods are provided for detecting and quantitating molecules using fluidics. In some embodiments, the methods comprise minimizing or eliminating biases caused by label density, or minimizing or eliminated biases caused by factors other than label density. In some embodiments, the methods comprise automated identification of genetic structural variation. In some embodiments, the methods comprise analyzing blood to detect the presence of circulating DNA or cells from a fetus or tumor.

Reduction of bias in genomic coverage measurements

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

Systems and methods for inferring a status of a cell population are provided. Described techniques allow deconvolving a first clonal population comprising a first plurality of cells of a species, wherein nucleic acid sequence reads from each cell in the first plurality of cells are obtained. The nucleic acid sequence reads are mapped into bins representing portions of a reference genome, and a pattern of sequence read counts for each cell across the multiple bins is used to assign a cell to a group, thereby inferring a mitotic status of the cell. The assignment of nucleic acid sequence reads into bins is also be used for segregating cells into classes based on a status of a certain biological marker in each cell. Comparison of sequence read counts for a subset of bins across the cell classes allows evaluating effect of a compound on a cell status.

Systems and methods for inferring cell status

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.

A method and system for analyzing circulating cell-free nucleic acids from a pregnant female with reduced bias, Counts of sequence reads mapped to portions of a reference genome are obtained. A regression model is generated that models the relationship between the counts and the GC content. The read counts are normalized according to the regression model to remove the GC bias. The normalized counts are used for further analysis, such as the detection of fetal aneuploidy.

Provided herein are methods, processes, systems and apparatuses for non-invasive assessment of a chromosome aneuploidy in a fetus according to a comparison of ratios of counts of sequence reads mapped to certain chromosomes. Also provided herein are methods, processes, systems and apparatuses for non-invasive assessment of a copy number variation in a fetus.

Growing community of inventors

San Diego, CA, United States of America

Zeljko Dzakula