Abstract: In some embodiments of the invention, methods are provided to interrogate the transcriptional activity relating to RNAs of small molecular weight. The methods employ hybridization of a large number of oligonucleotide probes with nucleic acid derived from RNAs of small molecular weight.

Abstract: Methods, kits and arrays of nucleic acid probes for genotyping large numbers of human SNPs in parallel are provided. A set of more than 100,000 human SNPs, known to be biallelic in at least two populations is provided. Allele specific perfect match probes and genotyping probe sets are provided for each allele of each biallelic SNP in a set of human SNPs that is useful for genetic analysis within and across populations. Probe sets that include perfect match and mismatch probes are provided. The probe sets are suitable for inclusion in an array. The invention provides the SNP and surrounding sequence and provides the sequences in such a way as to make them available for a variety of analyses including genotyping. As such, the invention relates to diverse fields impacted by the nature of genetics, including biology, medicine, and medical diagnostics.

Abstract: Methods and software products for analysis of alternative splicing are disclosed. In general the methods involve normalizing probe set or exon intensity to an expression level measurement of the gene. The methods may be used to identify tissue-specific alternative splicing events.

Abstract: The invention relates to the selection of a collection of relevant single nucleotide polymorphisms across a genome to design a nucleic acid probe array. As such, the invention relates to diverse fields impacted by the nature of genetics, including biology, medicine, and medical diagnostics.

Abstract: A method of reconstructing a cell using a raw image of a biological probe array is described that comprises (a) assigning an intensity value to a reconstructed cell of a reconstructed image, where each reconstructed cell comprises a plurality of reconstructed pixels; (b) determining a weighted intensity value for each reconstructed pixel in the reconstructed cell using the intensity value of the reconstructed cell and a weight value; (c) determining an error value for each reconstructed pixel using the weighted intensity value and a raw intensity value corresponding to a pixel in the raw image; (d) updating the intensity value of the reconstructed cell using the error value; and (e) repeating steps (b)-(d) until convergence, wherein the intensity value for the reconstructed cell is representative of light emitted from a corresponding probe feature on the biological probe array.

Abstract: Methods, kits and arrays of nucleic acid probes for genotyping large numbers of human SNPs in parallel are provided. A set of more than 100,000 human SNPs, known to be biallelic in at least two populations is provided. Allele specific perfect match probes and genotyping probe sets are provided for each allele of each biallelic SNP in a set of human SNPs that is useful for genetic analysis within and across populations. Probe sets that include perfect match and mismatch probes are provided. The probe sets are suitable for inclusion in an array. The invention provides the SNP and surrounding sequence and provides the sequences in such a way as to make them available for a variety of analyses including genotyping. As such, the invention relates to diverse fields impacted by the nature of genetics, including biology, medicine, and medical diagnostics.

Abstract: An embodiment of a method for calling the genotype of a biological sequence is described that comprises receiving sets of intensity data each comprising an intensity value for each probe feature associated with a probe set disposed on a probe array; independently applying filters to the intensity values of a probe set associated with a forward strand and of a probe set associated with a reverse strand, where the probe sets interrogate the same sequence position; independently applying models to the filtered intensity values for the forward strand and the reverse strand, where the models produce a genotype call for each strand; combining the genotype call for the forward strand and the genotype call for the reverse strand to generate a final genotype call; and testing the reliability of the final genotype call.

Abstract: In one embodiment of the invention, computerized methods are provided for analyzing transcript sequence clusters by aligning the transcripts with genomic sequences to determine whether a cluster needs to be sub-clustered and whether clusters should be merged. In addition, in some embodiments, transcript sequences are trimmed according to their alignment with their corresponding genomic sequences. The modified clusters and trimmed sequences may be used for nucleic acid probe array design.

Abstract: In some embodiments of the invention, methods are provided to interrogate the transcriptional activity relating to RNAs of small molecular weight. The methods employ hybridization of a large number of oligonucleotide probes with nucleic acid derived from RNAs of small molecular weight.

Abstract: In one embodiment of the invention, methods are provided for selecting probes upstream from alternative polyadenylation sites of a target sequence cluster.

Abstract: In one embodiment of the invention, computerized methods are provided for detecting polyadenylation sites and polyadenylation signals.

Abstract: In one embodiment of the invention, computerized methods are provided for analyzing transcript sequence clusters by aligning the transcripts with genomic sequences to determine whether a cluster needs to be sub-clustered and whether clusters should be merged. In addition, in some embodiments, transcript sequences are trimmed according to their alignment with their corresponding genomic sequences. The modified clusters and trimmed sequences may be used for nucleic acid probe array design.

Abstract: In one embodiment of the invention, methods are provided for selecting probes upstream from alternative polyadenylation sites of a target sequence cluster.

Abstract: In one embodiment of the invention, computerized methods are provided for determining the orientation of EST sequence Clusters. The method employs Bayesian analysis of evidence.