Enrichment of sequencing targets from the human genome by solution hybridization.
To exploit fully the potential of current sequencing technologies for population-based studies, one must enrich for loci from the human genome. Here we evaluate the hybridization-based approach by using oligonucleotide capture probes in solution to enrich for approximately 3.9 Mb of sequence target. We demonstrate that the tiling probe frequency is important for generating sequence data with high uniform coverage of targets. We obtained 93% sensitivity to detect SNPs, with a calling accuracy greater than 99%.
Tewhey
Ryan
R
Scripps Genomic Medicine, Scripps Translational Science Institute, The Scripps Research Institute, 3344 N Torrey Pines Court, La Jolla, CA 92037, USA. rtewhey@ucsd.edu
Nakano
Masakazu
M
Wang
Xiaoyun
X
Pabón-Peña
Carlos
C
Novak
Barbara
B
Giuffre
Angelica
A
Lin
Eric
E
Happe
Scott
S
Roberts
Doug N
DN
LeProust
Emily M
EM
Topol
Eric J
EJ
Harismendy
Olivier
O
Frazer
Kelly A
KA
D001483:Base Sequence; D002460:Cell Line; D015342:DNA Probes / Q000378:metabolism; D005091:Exons / Q000235:genetics; D015723:Gene Library; D015894:Genome, Human / Q000235:genetics*; D005838:Genotype; D006801:Humans; D009154:Mutation / Q000235:genetics; D009693:Nucleic Acid Hybridization / Q000379:methods*; D020411:Oligonucleotide Array Sequence Analysis; D015203:Reproducibility of Results; D017422:Sequence Analysis, DNA / Q000379:methods*; D012996:Solutions
D015342:DNA Probes; D012996:Solutions