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.
Stefan Bekiranov - Oakland CA, US Rui Mei - Santa Clara CA, US Mei-Mei Shen - Cupertino CA, US Teresa Webster - Santa Clara CA, US
Assignee:
Affymetrix, INC. - Santa Clara CA
International Classification:
C12Q001/68 G06F019/00 G01N033/48 G01N033/50
US Classification:
435/006000, 702/020000
Abstract:
The present invention includes methods for predicting the quantitative response of probes on a microarray. In a preferred embodiment, sequence dependent parameters are predicted and then used to predict probe response.
System, Method, And Computer Software Product For Generating Genotype Calls
Xiaojun Di - Sunnyvale CA, US Teresa Webster - Olga WA, US Daniel Bartell - San Carlos CA, US Richard Chiles - Castro Valley CA, US
Assignee:
Affymetrix, INC. - Santa Clara CA
International Classification:
C12Q001/68 G06F019/00 G01N033/48 G01N033/50
US Classification:
435006000, 702020000
Abstract:
A method for calling the genotype of a sample is described comprising the acts of receiving emission data for one or more target sequences each hybridized to a plurality of probe sets, where each of the probe sets comprises a plurality of probe features; calculating a set of values for each of the probe sets associated with each target sequence; selecting one of the set of values for each of the probe sets associated with each target sequence, wherein the value is selected if it is greater than a reference value; determining a significance value from the selected values of all the probe sets associated with each target sequence; and producing a genotype call for each target sequence based upon the significance value.