Methods for Mapping Bar-Coded Molecules for Structural Variation Detection and Sequencing

摘要

The invention includes methods for optimally designing probes and analyzing data from sequence-byhybridization and related methods of stretched molecules or other experimental approaches that provide local information. An exemplary method of analyzing a nucleic acid sample may comprise: selecting a group of one or more labeled oligonucleotide probe(s), contacting at least one of the group of the labeled oligonucleotide probe(s) to at least one nucleic acid molecule(s) from the nucleic acid sample, wherein the nucleic acid molecule(s) is stretched, and correlating one or more point(s) of contact to a structural characteristic of the nucleic acid sample. In some embodiments, the nucleic acid molecule(s) is deoxyribonucleic acid (DNA) and/or the method of contacting is hybridization or ligation.