Abstract: Described herein are methods, compositions, kits, and uses thereof for analysis of nucleic acid segments comprising a repeating A/T-rich segment, wherein the repeating A/T-rich segment is: (i) a homopolymeric segment comprising at least 10 A residues, at least 10 T residues, or at least 10 U residues, wherein the at least 10 A, T, or U residues are consecutive or interrupted once by one to three other nucleotides; or (ii) a segment comprising (TnA)m, (ATn)m, (TAn)m, or (AnT)m, wherein n is 2 or greater and m is such that the length of the repeating A/T-rich segment is 10 or more residues.

Abstract: Described herein are methods, compositions, kits, and uses thereof for analysis of nucleic acid segments comprising a repeating A/T-rich segment, wherein the repeating A/T-rich segment is: (i) a homopolymeric segment comprising at least 10 A residues, at least 10 T residues, or at least 10 U residues, wherein the at least 10 A, T, or U residues are consecutive or interrupted once by one to three other nucleotides; or (ii) a segment comprising (TnA)m, (ATn)m, (TAn)m, or (AnT)m, wherein n is 2 or greater and m is such that the length of the repeating A/T-rich segment is 10 or more residues.

Abstract: Described herein are methods, compositions, kits, and uses thereof for analysis of nucleic acid segments comprising a repeating A/T-rich segment, wherein the repeating A/T-rich segment is: (i) a homopolymeric segment comprising at least 10 A residues, at least 10 T residues, or at least 10 U residues, wherein the at least 10 A, T, or U residues are consecutive or interrupted once by one to three other nucleotides; or (ii) a segment comprising (TnA)m, (ATn)m, (TAn)m, or (AnT)m, wherein n is 2 or greater and m is such that the length of the repeating A/T-rich segment is 10 or more residues.

Abstract: This disclosure relates to methods of determining the presence and position of AGG or interruptor elements within a trinucleotide (for example, CGG) repeat region, and to methods of determining the number of repeats present in this region, by amplifying a set of products with a set of primers of which at least one comprises a portion of the CGG repeat region, and resolving the products to produce a representation of product size and abundance.

Abstract: Methods are provided for determining the methylation status of GC-rich templates. The methods include use of GC reference standards that allow simultaneous characterization of methylation status and CGG repeat length. The methods are useful for detecting genotypes associated with GC-rich repeats, including Fragile X Syndrome.

Abstract: Disclosed herein are methods for the automated reconstruction of a genotype of a gene, fragment, or genomic region using exhaustive enumeration. The methods can be used to reconstruct the genotype of any GC-rich sequence, such as the CGG repeat region in the 5? UTR of FMR1 or the CCG repeat region in the 5? UTR of FMR2. Also disclosed is an apparatus for use in conducting automated genotype reconstruction, as well as methods of diagnosis and treatment using exhaustive enumeration methods to reconstruct and identify genotypes associated with a disease or disorder.

Abstract: This disclosure relates to methods of determining the presence and position of AGG or interruptor elements within a trinucleotide (for example, CGG) repeat region, and to methods of determining the number of repeats present in this region, by amplifying a set of products with a set of primers of which at least one comprises a portion of the CGG repeat region, and resolving the products to produce a representation of product size and abundance.

Abstract: This disclosure relates to methods of determining the presence and position of AGG or interruptor elements within a trinucleotide (for example, CGG) repeat region, and to methods of determining the number of repeats present in this region, by amplifying a set of products with a set of primers of which at least one comprises a portion of the CGG repeat region, and resolving the products to produce a representation of product size and abundance.

Abstract: Disclosed herein are methods for the automated reconstruction of a genotype of a gene, fragment, or genomic region using exhaustive enumeration. The methods can be used to reconstruct the genotype of any GC-rich sequence, such as the CGG repeat region in the 5? UTR of FMR1 or the CCG repeat region in the 5? UTR of FMR2. Also disclosed is an apparatus for use in conducting automated genotype reconstruction, as well as methods of diagnosis and treatment using exhaustive enumeration methods to reconstruct and identify genotypes associated with a disease or disorder.

Abstract: Methods are provided for determining the methylation status of GC-rich templates. The methods include use of GC reference standards that allow simultaneous characterization of methylation status and CGG repeat length. The methods are useful for detecting genotypes associated with GC-rich repeats, including Fragile X Syndrome.

Abstract: This disclosure relates to methods of determining the presence and position of AGG or interruptor elements within a trinucleotide (for example, CGG) repeat region, and to methods of determining the number of repeats present in this region, by amplifying a set of products with a set of primers of which at least one comprises a portion of the CGG repeat region, and resolving the products to produce a representation of product size and abundance.