Patent classifications
C12Q2539/115
GENOMIC CLASSIFIER THAT PREDICTS RESPONSE TO MULTI-KINASE INHIBITOR TREATMENT INTRODUCTION
The method for predicting the anti-tumor response in a human or animal having a tumor to multiple kinase inhibitors, using any multiple kinase inhibitor, comprises selection of genes encoding for protein kinases targeted by the said tyrosine kinase inhibitor, for each one of these genes, providing at least one nucleic acid probe which hybridizes to said gene under stringent conditions, thus providing an array of nucleic acid probes, having a biological sample containing cancer cells from said human or animal, extracting DNA from the sample, fragmenting into DNA fragments, optionally labeling the DNA fragments, submitting the optionally labeled DNA fragments to hybridization with the array of nucleic acid probes, recovering and quantifying for all the genes the gains or losses in gene copy numbers, wherein gains and losses of gene copy numbers of each selected gene are used to determine whether the tumor is sensitive or not to said kinase inhibitor.
HIGH THROUGHPUT METHOD OF SCREENING A POPULATION FOR MEMBERS COMPRISING MUTATION(S) IN A TARGET SEQUENCE USING ALIGNMENT-FREE SEQUENCE ANALYSIS
The present invention provides methods for isolation of a member of a population which has one or more mutation(s) in one or more target sequence(s) in a population. The method may comprise the steps of: (a) pooling genomic DNA isolated from each member of the population in one or more dimensions; (b) amplifying the one or more target sequence(s) in the pooled genomic DNA, wherein optionally the amplification products are pooled; (c) sequencing the amplified products or obtaining the sequence reads for the amplified products, wherein, optionally, sequencing is by pair-end sequencing and further comprises merging the paired-end reads into composite read(s); (d) identifying the mutation(s) based on alignment-free sequence analysis of sequencing data, optionally by k-mer analysis and (e) identifying individual member(s) of the population comprising the one or more identified mutations in the target sequences, optionally by high-resolution DNA melting (HRM).
HIGH THROUGHPUT METHOD OF SCREENING A POPULATION FOR MEMBERS COMPRISING MUTATION(S) IN A TARGET SEQUENCE USING ALIGNMENT-FREE SEQUENCE ANALYSIS
The present invention provides methods for isolation of a member of a population which has one or more mutation(s) in one or more target sequence(s) in a population. The method may comprise the steps of: (a) pooling genomic DNA isolated from each member of the population in one or more dimensions; (b) amplifying the one or more target sequence(s) in the pooled genomic DNA, wherein optionally the amplification products are pooled; (c) sequencing the amplified products or obtaining the sequence reads for the amplified products, wherein, optionally, sequencing is by pair-end sequencing and further comprises merging the paired-end reads into composite read(s); (d) identifying the mutation(s) based on alignment-free sequence analysis of sequencing data, optionally by k-mer analysis and (e) identifying individual member(s) of the population comprising the one or more identified mutations in the target sequences, optionally by high-resolution DNA melting (HRM).
Comparative genomic hybridization array method for preimplantation genetic screening
A method for determining the presence of a copy number imbalance in genomic DNA of a test sample is provided. The method can separately measure hybridization of a single test sample to a first hybridization array and hybridization of a plurality of reference samples to a plurality of other, respective test arrays. A determination of copy number can be based on the best fit reference array, relative to the test array. The best fit can be determined based on the closest or most similar signal-to-noise ratio of the measured signals.
Comparative genomic hybridization array method for preimplantation genetic screening
A method for determining the presence of a copy number imbalance in genomic DNA of a test sample is provided. The method can separately measure hybridization of a single test sample to a first hybridization array and hybridization of a plurality of reference samples to a plurality of other, respective test arrays. A determination of copy number can be based on the best fit reference array, relative to the test array. The best fit can be determined based on the closest or most similar signal-to-noise ratio of the measured signals.
ASSESSMENT OF RISK OF ANEUPLOIDY
The present disclosure relates generally to methods and materials for use in detecting abnormalities of the number of whole chromosomes or chromosome regions (aneuploidy). It has particular utility for assessing the risk of aneuploidy of eggs (i.e., oocytes), fertilised eggs or embryos developed therefrom in the context of in vitro fertilisation.
MULTI-SITE ENRICHMENT OF DELETIONS IN DNA MICROSATELLITES
Presently described are compositions and methods for performing genome-wide enrichment of DNA microsatellites (e.g., homopolymers) containing deletions and facilitating their detection via sequencing or other downstream methodologies. Additionally, disclosed herein are compositions and methods for selecting the genomic fraction containing poly-adenine/poly-thymidine homopolymer repeats and other A:T-rich sequences of low melting temperature from the genome, so that very little sequencing is required to detect the enriched homo-polymer deletions.
MULTI-SITE ENRICHMENT OF DELETIONS IN DNA MICROSATELLITES
Presently described are compositions and methods for performing genome-wide enrichment of DNA microsatellites (e.g., homopolymers) containing deletions and facilitating their detection via sequencing or other downstream methodologies. Additionally, disclosed herein are compositions and methods for selecting the genomic fraction containing poly-adenine/poly-thymidine homopolymer repeats and other A:T-rich sequences of low melting temperature from the genome, so that very little sequencing is required to detect the enriched homo-polymer deletions.
SPATIAL MAPPING OF NUCLEIC ACID SEQUENCE INFORMATION
Presented are methods and compositions for spatial detection and analysis of nucleic acids in a tissue sample. The methods can enable the characterization of transcriptomes and/or genomic variations in tissues while preserving spatial information about the tissue.
Spatial mapping of nucleic acid sequence information
Presented are methods and compositions for spatial detection and analysis of nucleic acids in a tissue sample. The methods can enable the characterization of transcriptomes and/or genomic variations in tissues while preserving spatial information about the tissue.