Methods for genotyping polymorphisms in humans

US7361468B2 · kind B2 · utility

Assignee

• AFFYMETRIX, INC. · US

Inventors

• Guoying Liu · San Ramon, US
• Simon Cawley · Oakland, US
• Hajime Matsuzaki · Palo Alto, US
• Earl Hubbell · Mountain View, US
• Geoffrey Yang · San Jose, US
• Teresa Webster · Loma Mar, US
• Rui Mei · Santa Clara, US
• Xiaojun Di · Cupertino, US
• Richard Chiles · Springfield, US

Key dates

• Filing date: Jul 5, 2005
• Grant date: Apr 22, 2008
• Expiry date: Jul 27, 2026

Classification

• Technology area (CPC C): Chemistry; Metallurgy
• CPC primary: C12Q2600/156
• WIPO field: Biotechnology
• WIPO sector: Chemistry

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.