Systems and methods for detecting monomer changes in a sample when an unknown quantity of expected monomers may also be present. Homogeneous and heterogeneous samples are exposed to polymer probes for hybridization. The hybridization affinities of the polymer probes to the samples are then compared to determine differences between the polymers in the samples. Accordingly, deletion, substitution and insertion mutations may be detected in a heterogeneous sample of nucleic acids.
Computer Software For Genotyping Analysis Using Pattern Recognition
Eugene Wang - Milpitas CA, US Teresa Webster - Loma Mar CA, US
Assignee:
Affymetrix, Inc. - Santa Clara CA
International Classification:
G01N 3348
US Classification:
702 19, 702 20, 435 6
Abstract:
Methods, systems and computer software products are provided for determining genotype of a sample using a plurality of probes. In one preferred embodiment, a tentative genotype call is made based upon the relative allele signals. Pattern recognition is then used to validate the tentative call.
Method, System, And Computer Software For The Presentation And Storage Of Analysis Results
Shantanu Kaushikkar - San Jose CA, US Teresa Webster - Loma Mar CA, US Rui Mei - Santa Clara CA, US Linda McAllister - San Francisco CA, US
Assignee:
Affymetrix, Inc. - Santa Clara CA
International Classification:
G01N 33/48 C12Q 1/68 G06F 7/00
US Classification:
702 19, 702 20, 707102, 435 6, 436501, 536 231
Abstract:
A computer program product, and related systems and methods, are described that processes emission intensity data corresponding to probes of a biological probe array. The computer program includes a genotype and statistical analysis manager that determines absolute or relative expression values based, at least in part, on a statistical measure of the emission intensity data and at least one user-selectable statistical parameter. The analysis manager may also determine genotype calls for one or more probes based, at least in part, on the emission intensity data, The analysis manager may further display the absolute or relative expression values based, at least in part, on at least one user-selectable display parameter and/or a measure of normalized change between genotype calls. The measure of normalized change may be based, at least in part, on a comparison of genotype calls and a reference value.
System, Method, And Computer Software For Genotyping Analysis And Identification Of Allelic Imbalance
Rui Mei - Santa Clara CA, US Teresa Webster - Loma Mar CA, US
Assignee:
Affymetrix, Inc. - Santa Clara CA
International Classification:
G06F 17/00 C12Q 1/68
US Classification:
702 20, 435 6, 702 19
Abstract:
Methods, systems and computer software products are provided for determining genotype of a sample using a plurality of probes. In one preferred embodiment, a tentative genotype call is made based upon the relative allele signals. Pattern recognition is then used to validate the tentative call.
Methods For Selecting A Collection Of Single Nucleotide Polymorphisms
Teresa A. Webster - Santa Clara CA, US Hajime Matsuzaki - Palo Alto CA, US Xiaojun Di - Cupertino CA, US Earl A. Hubbell - Palo Alto CA, US Rui Mei - Santa Clara CA, US Simon Cawley - Oakland CA, US Gregory Marcus - San Carlos CA, US Keith W. Jones - Sunnyvale CA, US
Assignee:
Affymetrix, Inc. - Santa Clara CA
International Classification:
G06F 7/00
US Classification:
702 19, 702 20, 703 11, 703 13, 435 6, 536 245
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.
System, Method, And Computer Software For The Presentation And Storage Of Analysis Results
Shantanu V. Kaushikkar - San Jose CA, US Teresa Webster - Loma Mar CA, US Rui Mei - Santa Clara CA, US Linda McAllister - San Francisco CA, US
Assignee:
Affymetrix, Inc. - Santa Clara CA
International Classification:
G06F 7/00
US Classification:
702 19, 702 20, 703 11, 707700, 435 6, 536 245
Abstract:
A computer program product, and related systems and methods, are described that processes emission intensity data corresponding to probes of a biological probe array. The computer program includes a genotype and statistical analysis manager that determines absolute or relative expression values based, at least in part, on a statistical measure of the emission intensity data and at least one user-selectable statistical parameter. The analysis manager may also determine genotype calls for one or more probes based, at least in part, on the emission intensity data. The analysis manager may further display the absolute or relative expression values based, at least in part, on at least one user-selectable display parameter and/or a measure of normalized change between genotype calls. The measure of normalized change may be based, at least in part, on a comparison of genotype calls and a reference value.
System, Method, And Computer Software For The Presentation And Storage Of Analysis Results
Shantanu V. Kaushikkar - San Jose CA, US Teresa A. Webster - Santa Clara CA, US Rui Mei - Santa Clara CA, US Linda McAllister - San Francisco CA, US
Assignee:
Affymetrix, Inc. - Santa Clara CA
International Classification:
G06F 7/00
US Classification:
702 19, 702 20, 703 11, 707700, 436501
Abstract:
A computer program product, and related systems and methods, are described that processes emission intensity data corresponding to probes of a biological probe array. The computer program includes a genotype and statistical analysis manager that determines absolute or relative expression values based, at least in part, on a statistical measure of the emission intensity data and at least one user-selectable statistical parameter. The analysis manager may also determine genotype calls for one or more probes based, at least in part, on the emission intensity data. The analysis manager may further display the absolute or relative expression values based, at least in part, on at least one user-selectable display parameter and/or a measure of normalized change between genotype calls. The measure of normalized change may be based, at least in part, on a comparison of genotype calls and a reference value.
Guoying Liu - Emeryville CA, US Simon Cawley - Oakland CA, US Hajime Matsuzaki - Palo Alto CA, US Earl A. Hubbell - Palo Alto CA, US Geoffrey Yang - San Jose CA, US Teresa A. Webster - Santa Clara CA, US Rui Mei - Santa Clara CA, US Xiaojun Di - Cupertino CA, US Richard Chiles - Castro Valley CA, US
Assignee:
Affymetrix, Inc. - Santa Clara CA
International Classification:
C12Q 1/68 C07H 21/04 C12M 3/00 C12M 1/34
US Classification:
435 6, 4352872, 435 911, 536 231, 536 243
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.