| 主权项 |
1. A method for assessing the presence or absence of a chromosomal deletion or duplication syndrome in a subject, comprising:
probing a sample obtained from the subject for the presence or absence of one or more copy number variants (CNVs) associated with the chromosomal deletion or duplication syndrome, wherein the probing step comprises, mixing the sample with five or more oligonucleotides that are substantially complementary to portions of the genomic DNA sequence associated with the deletion or duplication syndrome under conditions suitable for hybridization of the five or more oligonucleotides to their complements or substantial complements; detecting whether hybridization occurs between the five or more oligonucleotides to their complements or substantial complements, or a subset thereof; obtaining hybridization values of the sample based on the detecting step; comparing the hybridization values of the sample to reference hybridization value(s) from at least one training set comprising hybridization value(s) from a sample that is positive for the one or more CNVs, or hybridization value(s) from a sample that is negative for the one or more CNVs, wherein the comparing step comprises determining a correlation between the hybridization values obtained from the sample and the hybridization value(s) from the at least one training set; determining whether the one or more CNV(s) is present or absent based on the comparing step; assessing whether the subject has the chromosomal deletion or duplication syndrome based on the determination of whether the one or more CNV(s) is present or absent. |
