Open AccessDesign of Large‐Insert Jumping Libraries for Structural Variant Detection Using Illumina Sequencing
Author(s) -
Hanscom C.,
Talkowski M.
Publication year - 2014
Publication title -
current protocols in human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.282
H-Index - 30
eISSN - 1934-8258
pISSN - 1934-8266
DOI - 10.1002/0471142905.hg0722s80
Subject(s) - insert (composites) , dna sequencing , illumina dye sequencing , computational biology , biology , bacterial artificial chromosome , breakpoint , structural variation , genetics , genome , dna , chromosome , gene , mechanical engineering , engineering
Next‐generation sequencing is an important and efficient tool for the identification of structural variation, particularly balanced chromosomal rearrangements, because such events are not routinely detected by microarray and localization of altered regions by karyotype is imprecise. Indeed, the degree of resolution that can be obtained through next‐generation technologies enables elucidation of precise breakpoints and has facilitated the discovery of numerous pathogenic loci in human disease and congenital anomalies. The protocol described here explains one type of large‐insert “jumping library” and the steps required to generate such a library for multiplexed sequencing using Illumina sequencing technology. This approach allows for cost‐efficient multiplexing of samples and provides a very high yield of fragments with large inserts, or “jumping” fragments. Curr. Protoc. Hum. Genet . 80:7.22.1‐7.22.9. © 2014 by John Wiley & Sons, Inc.