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filtre  Année de publication Type de document Nature methods 
2008;5(10):887-893. We developed a generalized framework for
multiplexed resequencing of targeted regions of the human genome
on the Illumina Genome Analyzer using degenerate indexed DNA
sequence barcodes ligated to fragmented DNA prior to sequencing.
Using this method, the DNA of multiple HapMap individuals was
simultaneously sequenced at several ENCODE (ENCyclopedia of DNA
Elements) regions. We then evaluated the use of Bayes factors
for discovering and genotyping polymorphisms from aligned
sequenced reads. If we required that predicted polymorphisms be
either previously identified by dbSNP or be visually evident
upon reinspection of archived ENCODE traces, we observed a
false-positive rate of 11.3% using strict thresholds (Ks>1,000)
for predicting variants and 69.6% for lax thresholds (Ks>10).
Conversely, false-negative rates ranged f