IP Library Granted Patent US 9,605,313
Granted Patent B2
US 9,605,313 · App. 13/782,901 · Granted Mar 28, 2017

Methods and processes for non-invasive assessment of genetic variations

Inventors: Charles R. Cantor (Del Mar, CA); Grace DeSantis (San Diego, CA); Reinhold Mueller (San Diego, CA); Mathias Ehrich (San Diego, CA)
Assignee: SEQUENOM, INC.
C12Q1/6883C07K16/18C12Q1/6804
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Quick Facts
Patent No.
US 9,605,313
App. No.
13/782,901
Granted
Mar 28, 2017
Kind
B2
Abstract

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

Claims (10)

1. A method for enriching fetal nucleic acid in sample nucleic acid that includes fetal nucleic acid and maternal nucleic acid, comprising:

(a) obtaining cell-free circulating sample nucleic acid from a biological sample from a pregnant female; and

(b) separating some or substantially all of the fetal nucleic acid from the maternal nucleic acid by contacting the sample nucleic acid with a H1M-specific antibody or H1FOO-specific antibody, thereby generating a separation product enriched for fetal nucleic acid relative to fetal nucleic acid in the sample nucleic acid.

2. The method of claim 1 , wherein the sample nucleic acid is from blood plasma.

3. The method of claim 1 , wherein obtaining the sample nucleic acid comprises subjecting the biological sample to an in vitro process that isolates the sample nucleic acid from other sample components.

4. The method of claim 3 , wherein the in vitro process comprises centrifugation.

5. The method of claim 1 , wherein the separation product comprises about 50% or greater fetal nucleic acid.

6. The method of claim 1 , further comprising sequencing the nucleic acid in the separation product using a nucleotide sequencing process, thereby generating nucleotide sequence reads.

7. The method of claim 6 , further comprising detecting the presence or absence of a genetic variation according to the nucleotide sequence reads wherein the genetic variation is a chromosome aneuploidy.

8. The method of claim 7 , wherein the chromosome aneuploidy is a chromosome 21 aneuploidy.

Assignments (2)
CORRECTIVE ASSIGNMENT TO CORRECT THE STATE OF INCORPORATION OF ASSIGNEE. PREVIOUSLY RECORDED ON REEL 031147 FRAME 0037. ASSIGNOR(S) HEREBY CONFIRMS THE ASSIGNMENT. Recorded Mar 16, 2016
From: CANTOR, CHARLES; DESANTIS, GRACE; MUELLER, REINHOLD; EHRICH, MATHIAS
To: SEQUENOM, INC.
Reel/Frame 038109/0452 →
ASSIGNMENT OF ASSIGNOR'S INTEREST Recorded Sep 5, 2013
From: CANTOR, CHARLES; DESANTIS, GRACE; MUELLER, REINHOLD; EHRICH, MATHIAS
To: SEQUENOM, INC.
Reel/Frame 031147/0037 →
Continuity (2)
Provisional Application 61606226 · Mar 2, 2012
Related Publication 20130230858A1 · Sep 5, 2013