Targeted sequencing of the human X chromosome exome.
Genomics
; 98(4): 260-5, 2011 Oct.
Article
em En
| MEDLINE
| ID: mdl-21524701
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Transtornos Globais do Desenvolvimento Infantil
/
Análise de Sequência de DNA
/
Cromossomos Humanos X
/
Exoma
Tipo de estudo:
Diagnostic_studies
/
Evaluation_studies
Limite:
Adult
/
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
Genomics
Assunto da revista:
GENETICA
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Estados Unidos