| CPC C12Q 1/6806 (2013.01) [C12Q 1/6837 (2013.01); C12Q 1/6874 (2013.01)] | 22 Claims |
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1. A method for sequencing one or more selected portions of a genome, the method comprising:
(a) providing starting genomic material;
(b) distributing individual nucleic acid molecules from the starting genomic material into discrete partitions such that each discrete partition contains a first individual nucleic acid molecule;
(c) fragmenting the individual nucleic acid molecules in the discrete partitions to form a plurality of fragments, wherein each of the fragments further comprises a barcode, and wherein fragments within a given discrete partition each comprise a common barcode, thereby associating each fragment with the individual nucleic acid molecule from which it is derived, wherein each discrete partition is associated with a unique common barcode;
(d) providing a population enriched for fragments comprising at least a portion of the one or more selected portions of the genome;
(e) obtaining sequence information from the population, thereby sequencing one or more selected portions of a genome.
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21. A method of obtaining sequence information from one or more targeted portions of a genomic sample, the method comprising:
(a) providing individual first nucleic acid fragment molecules of the genomic sample in discrete partitions;
(b) fragmenting the individual first nucleic acid fragment molecules within the discrete partitions to create a plurality of second fragments from each of the individual first nucleic acid fragment molecules;
(c) attaching a common barcode sequence to the plurality of the second fragments within a discrete partition, such that each of the plurality of second fragments are attributable to the discrete partition in which they are contained, wherein each discrete partition is associated with a unique common barcode;
(d) applying a library of probes directed to the one or more targeted portions of the genomic sample to the second fragments;
(e) conducting a sequencing reaction to identify sequences of the plurality of second fragments that hybridized to the library of probes, thereby obtaining sequence information from the one or more targeted portions of the genomic sample.
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22. A method of obtaining sequence information from one or more targeted portions of a genomic sample, the method comprising:
(a) providing individual nucleic acid molecules of the genomic sample in discrete partitions;
(b) fragmenting the individual nucleic acid molecules in the discrete partitions to form a plurality of fragments, wherein each of the fragments further comprises a barcode, and wherein fragments within a given discrete partition each comprise a common barcode, thereby associating each fragment with the individual nucleic acid molecule from which it is derived, wherein each discrete partition is associated with a unique common barcode;
(c) applying a library of probes directed to the one or more targeted portions of the genomic sample to the plurality of fragments, wherein at least a majority of the probes in the library of probes are designed to hybridize to informative single nucleotide polymorphisms (SNPs);
(d) conducting a sequencing reaction to identify sequences of the plurality of fragments that hybridized to the library of probes, thereby obtaining sequence information from the one or more targeted portions of the genomic sample.
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