Sequenom, Inc.

Illumina Corporation

Youting Sun

Mathias Ehrich

Dirk Johannes Van Den Boom

Amin R Mazloom

Taylor Jacob Jensen

Christopher Ellison

Sung Kyun Kim

John Allen Tynan

Mostafa Azab

Michael Sykes

Chih Lee

Ryan Matthew Kelley

Amin Mazloom

Jocelyn Bruand

Eric Allen

Dorothea Margherita Emig-agius

Gordon Jeff Bean

Christopher K Ellison

Timothy S Burcham

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

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

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San Diego, CA, United States of America

Youting Sun