Sequenom, Inc.

Other

Agena Bioscience, Inc.

Nucleix

Juno Diagnostics, Inc.

Sequenom Center for Molecular Medicine

Mathias Ehrich

Cosmin Deciu

Sung Kyun Kim

Taylor Jacob Jensen

Dirk Johannes Van Den Boom

Zeljko Dzakula

Amin R Mazloom

Anders Olof Herman Nygren

Charles Cantor

Grace DeSantis

Paul Andrew Oeth

Reinhold Mueller

Amin Mazloom

Chen Zhao

Gregory Hannum

Christopher Ellison

Jennifer Geis

Yong Qing Chen

Ron Michael McCullough

Roger Chan Tim

Youting Sun

Guy Del Mistro

Anders Olof Nygren

John Allen Tynan

Min Seob Lee

Yijin Wu

Sung J Kim

Mostafa Azab

Dirk Van Den Boom

Jim Chauvapun

Tyler Jacob Jensen

Mark Whidden

Lawrence Du

Michael Sykes

Christopher K Ellison

Timothy S Burcham

Ron Michael Mccullough

John A Tynan

Methods for applying machine learning algorithms to nucleic acid sequencing-based diagnostics tests for detection of copy number variation and other genomic abnormalities are described.

Deep learning-based methods, devices, and systems for prenatal testing

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

Technology provided herein relates in part to methods, processes, machines and apparatuses for non-invasive assessment of genetic alterations. In particular, a method is provided for that includes obtaining a set of sequence reads. The sequence reads each include a single molecule barcode (SMB) sequence that is a non-random oligonucleotide sequence. The method further includes assigning the sequence reads to read groups according to a read group signature. The read group signature comprises an SMB sequence and a start and end position of a nucleic acid fragment from the circulating cell free sample nucleic acid. The sequence reads comprising start and end positions and an SMB sequence similar to the read group signature are assigned to a read group. The method further includes generating a consensus for each read group, and determining the presence or absence of a genetic alteration based on the consensus for each read group.

Methods for non-invasive assessment of genetic alterations

Provided herein are methods, processes, systems, machines and apparatuses for non-invasive assessment of chromosome alterations.

Systems for non-invasive assessment of chromosome alterations using changes in subsequence mappability

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

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

Technology provided herein relates in part to non-invasive classification of one or more genetic copy number variations (CNVs) for a test sample. Technology provided herein is useful for classifying a genetic CNV for a sample as part of non-invasive pre-natal (NIPT) testing and oncology testing, for example.

Methods and processes for assessment of genetic variations

Provided herein are devices, systems, kits and methods for obtaining genetic information from cell-free fetal nucleic acids in ultra-low amounts of biological samples. Due to the convenience of obtaining ultra-low amounts of samples, devices, systems, kits and methods can be at least partially employed at a point of need.

Devices, systems and methods for ultra-low volume liquid biopsy

Technology provided herein relates in part to methods, processes, machines and apparatuses for non-invasive assessment of genomic nucleic acid instability and genomic nucleic acid stability. The method comprises providing a set of genomic portions each coupled to a copy number alteration quantification for a test sample, wherein the genomic portions comprises portions of a reference genome to which sequence reads obtained for nucleic acid from a test sample obtained from the subject have been mapped, and the copy number alteration quantification coupled to each genomic portion has been determined from a quantification of sequence reads mapped to the genomic portion; and determining, by a computing device, presence or absence of genomic instability for the subject according to the copy number alteration quantifications coupled to the genomic portions.

Copy number alteration and reference genome mapping

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.

Provided are methods for identifying the presence or absence of a chromosome abnormality by which a cell-free sample nucleic acid from a subject is analyzed. In certain embodiments, provided are methods for identifying the presence or absence of a fetal chromosome abnormality in a nucleic acid from cell-free maternal blood.

Processes and kits for identifying aneuploidy

Methods and compositions for identifying presence or absence of hypermethylation or hypomethylation locus

Growing community of inventors

San Diego, CA, United States of America

Mathias Ehrich