@article{Ajay01092011,
author = {Ajay, Subramanian S. and Parker, Stephen C.J. and Ozel Abaan, Hatice and Fuentes Fajardo, Karin V. and Margulies, Elliott H.}, 
title = {Accurate and comprehensive sequencing of personal genomes},
volume = {21}, 
number = {9}, 
pages = {1498-1505}, 
year = {2011}, 
doi = {10.1101/gr.123638.111}, 
abstract ={As whole-genome sequencing becomes commoditized and we begin to sequence and analyze personal genomes for clinical and diagnostic purposes, it is necessary to understand what constitutes a complete sequencing experiment for determining genotypes and detecting single-nucleotide variants. Here, we show that the current recommendation of ∼30× coverage is not adequate to produce genotype calls across a large fraction of the genome with acceptably low error rates. Our results are based on analyses of a clinical sample sequenced on two related Illumina platforms, GAIIx and HiSeq 2000, to a very high depth (126×). We used these data to establish genotype-calling filters that dramatically increase accuracy. We also empirically determined how the callable portion of the genome varies as a function of the amount of sequence data used. These results help provide a “sequencing guide” for future whole-genome sequencing decisions and metrics by which coverage statistics should be reported.}, 
URL = {http://genome.cshlp.org/content/21/9/1498.abstract}, 
eprint = {http://genome.cshlp.org/content/21/9/1498.full.pdf+html}, 
journal = {Genome Research} 
}