US 2021/0230693 A1Published application

Diagnosis and prediction of autism spectrum disorder

AssigneeLineagen, Inc.

InventorCharles H. Hensel

Life of this patent

Estimating the term…

Loading patent…

Abstract

Methods and compositions for the detection of single nucleotide polymorphisms in a sample are provided. The methods and compositions are employed to determine whether the subject has autism spectrum disorder (ASD), is likely to develop ASD, or to classify a subject as having a particular ASD subtype. In one method of the invention, a sample is probed for one or more SNPs in Table 1, Table 2, Table 3, Table 6 or Table 7 at the nucleic acid level by performing a polymerase chain reaction (PCR) with primers specific to the SNPs. The presence and/or absence of the one or more SNPs is then compared to the presence and/or absence of the of the SNPs in at least one sample training set(s), where the comparing step comprises applying a statistical algorithm which comprises determining a correlation between the SNP data obtained from the sample and the SNP data from the at least one training set. The sample is diagnosed as ASD positive or ASD negative based on the results of the statistical algorithm.

Claims17

Dependent claims

A method for diagnosing a sample from a human subject as ASD-positive or ASD negative, comprising

detecting the presence of one or more single nucleotide polymorphism (SNP) classifier biomarkers in Table 1, Table 2, Table 3, Table 6 or Table 7 at the nucleic acid level by performing a polymerase chain reaction (PCR) with primers specific to the classifier biomarkers;
comparing the presence and/or absence of the one or more SNP classifier biomarkers of Table 1, Table 2, Table 3, Table 6 or Table 7 to the presence and/or absence of the of said SNP classifier biomarkers in at least one sample training set(s), wherein the at least one sample training set(s) comprise (i) data of the presence and/or absence of the one or more SNP classifier biomarkers of Table 1, Table 2, Table 3, Table 6 or Table 7 from an ASD positive sample or (ii) data of the presence and/or absence of the one or more SNP classifier biomarkers of Table 1, Table 2, Table 3, Table 6 or Table 7 from an ASD-negative sample,
and the comparing step comprises applying a statistical algorithm which comprises determining a correlation between the SNP classifier biomarker data obtained from the sample and the SNP classifier biomarker data from the at least one training set;
and
diagnosing the sample as ASD positive or ASD negative based on the results of the statistical algorithm.

2 more elements

A method for classifying a sample from a human subject as a particular ASD subtype, comprising,

detecting the presence of one or more SNP classifier biomarkers in Table 1, Table 2, Table 3, Table 6 or Table 7 at the nucleic acid level by performing a polymerase chain reaction (PCR) with primers specific to the classifier biomarkers;
comparing the presence and/or absence of the one or more SNP classifier biomarkers of Table 1, Table 2, Table 3, Table 6 or Table 7 to the presence and/or absence of the of said SNP classifier biomarkers in at least one sample training set(s), wherein the at least one sample training set(s) comprise (i) data of the presence and/or absence of the one or more SNP classifier biomarkers of Table 1, Table 2, Table 3, Table 6 or Table 7 from a first ASD subtype positive sample or (ii) data of the presence and/or absence of the one or more SNP classifier biomarkers of Table 1, Table 2, Table 3, Table 6 or Table 7 from a second ASD subtype-positive sample,
and the comparing step comprises applying a statistical algorithm which comprises determining a correlation between the SNP classifier biomarker data obtained from the sample and the SNP classifier biomarker data from the at least one training set;
and
diagnosing the sample as a particular ASD subtype based on the results of the statistical algorithm.

2 more elements

Dependencies are inferred from the claim text.

Facts

Application: 16/951,470Filed 18 Nov 2020
Priority: 20 Dec 2013
Published: 29 Jul 2021
Term ends: Not estimatedThe source records don’t support an estimate.

Classification11 codes

C12Q 1/6883
Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes: for diseases caused by alterations of genetic material
G16B 20/20
ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations: allele or variant detection, e.g. single…
G16B 20/40
ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations: population genetics; Linkage disequilibrium
G16B 25/10
ICT specially adapted for hybridisation; ICT specially adapted for gene or protein expression: gene or protein expression profiling;…

Family

Application61/919,151Us provisional application · filed 20 Dec 2013
Application15/104,897Continuation · filed 15 Jun 2016
Application16/298,897Continuation · filed 11 Mar 2019
Application16/951,470Continuation
US 2017/0175189 A1Published application
US 2020/0032337 A1Published application
US 2021/0230693 A1This patent

From the US filing history. Foreign family members aren’t listed.