Methods and compositions for whole genome amplification and genotyping
AssigneeIllumina, Inc.
InventorsKevin L. Gunderson, Frank J. Steemers
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Abstract
This invention provides methods of amplifying genomic DNA to obtain an amplified representative population of genome fragments. Methods are further provided for obtaining amplified genomic DNA representations of a desired complexity. The invention further provides methods for simultaneously detecting large numbers of typable loci for an amplified representative population of genome fragments. Accordingly the methods can be used to genotype individuals on a genome-wide scale.
Claims14
A method for detecting typable loci of a genome, comprising the steps of (a) in vitro transcribing a population of amplified genome fragments, thereby obtaining genomic RNA fragments;
- (b) hybridizing said genomic RNA fragments with a plurality of nucleic acid probes having sequences corresponding to said typable loci, thereby forming a plurality of RNA fragment-probe hybrids;
- and (c) detecting typable loci of said RNA fragment-probe hybrids.
A method of producing a reduced complexity, locus-specific, amplified representative population of genome fragments, comprising the steps of (a) replicating a native genome with a plurality of random primers, thereby producing an amplified representative population of genome fragments;
- (b) replicating a sub-population of said amplified representative population of genome fragments with a plurality of different locus-specific primers, thereby producing a locus-specific, amplified representative population of genome fragments;
- and (c) isolating said sub-population, thereby producing a reduced complexity, locus-specific, amplified representative population of genome fragments.
Dependencies are inferred from the claim text.