METHODS AND COMPOSITIONS FOR TARGETED NUCLEIC ACID SEQUENCING

摘要

The present invention is directed to methods, compositions and systems for capturing and analyzing sequence information contained in targeted regions of a genome. Such targeted regions may include exomes, partial exomes, introns, combinations of exonic and intronic regions, genes, panels of genes, and any other subsets of a whole genome that may be of interest.

主权项

1. A method of obtaining sequence information from two or more targeted portions of a genomic sample, the method comprising:
(a) providing a plurality of nucleic acid molecules from the genomic sample; (b) attaching barcode sequences to a plurality of fragments of the nucleic acid molecules to provide barcoded fragments, such that barcoded fragments of a first nucleic acid molecule share a common barcode sequence that is different from a barcode sequence on barcoded fragments of at least a second nucleic acid molecule; (c) enriching for barcoded fragments that correspond to the one or more targeted portions of the genomic sample; (d) conducting a sequencing reaction to identify sequences of the barcoded fragments corresponding to two or more targeted portions of the genomic sample; and (e) determining linkage of the two or more targeted portions of the genomic sample based upon common barcode sequences.