Elsevier

Genomics

Volume 98, Issue 4, October 2011, Pages 260-265
Genomics

Targeted sequencing of the human X chromosome exome

https://doi.org/10.1016/j.ygeno.2011.04.004Get rights and content
Under an Elsevier user license
open archive

Abstract

We used a RainDance Technologies (RDT) expanded content library to enrich the human X chromosome exome (2.5 Mb) from 26 male samples followed by Illumina sequencing. Our multiplex primer library covered 98.05% of the human X chromosome exome in a single tube with 11,845 different PCR amplicons. Illumina sequencing of 24 male samples showed coverage for 97% of the targeted sequences. Sequence from 2 HapMap samples confirmed missing data rates of 2–3% at sites successfully typed by the HapMap project, with an accuracy of at least ~ 99.5% as compared to reported HapMap genotypes. Our demonstration that a RDT expanded content library can efficiently enrich and enable the routine sequencing of the human X chromosome exome suggests a wide variety of potential research and clinical applications for this platform.

Keywords

Human X chromosome
Exome
DNA sequencing
Targeted enrichment
Clinical diagnostics

Cited by (0)