ANALYSIS OF NUCLEIC ACID SEQUENCES

摘要

The present disclosure relates to methods, compositions and systems for haplotype phasing and copy number variation assays. Included within this disclosure are methods and systems for combining the barcode comprising beads with samples in multiple separate partitions, as well as methods of processing, sequencing and analyzing barcoded samples.

主权项

1. A method for identifying one or more variations in a nucleic acid, comprising:
(a) providing a first fragment of the nucleic acid, wherein the first fragment has a length greater than 10 kilobases (kb); (b) sequencing a plurality of second fragments of the first fragment to provide a plurality of fragment sequences, which plurality of fragment sequences share a common barcode sequence; (c) attributing the plurality of fragment sequences to the first fragment by a presence of the common barcode sequence; (d) determining a nucleic acid sequence of the first fragment using the plurality of fragment sequences, wherein the nucleic acid sequence is determined at an error rate of less than 1%; and (e) identifying the one or more variations in the nucleic acid sequence of the first fragment determined in (d), thereby identifying the one or more variations within the nucleic acid.