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2015 ; 79-80
(ä): 3-10
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Fast and accurate mapping of Complete Genomics reads
#MMPMID25461772
Lee D
; Hormozdiari F
; Xin H
; Hach F
; Mutlu O
; Alkan C
Methods
2015[Jun]; 79-80
(ä): 3-10
PMID25461772
show ga
Many recent advances in genomics and the expectations of personalized medicine
are made possible thanks to power of high throughput sequencing (HTS) in
sequencing large collections of human genomes. There are tens of different
sequencing technologies currently available, and each HTS platform have different
strengths and biases. This diversity both makes it possible to use different
technologies to correct for shortcomings; but also requires to develop different
algorithms for each platform due to the differences in data types and error
models. The first problem to tackle in analyzing HTS data for resequencing
applications is the read mapping stage, where many tools have been developed for
the most popular HTS methods, but publicly available and open source aligners are
still lacking for the Complete Genomics (CG) platform. Unfortunately,
Burrows-Wheeler based methods are not practical for CG data due to the gapped
nature of the reads generated by this method. Here we provide a sensitive read
mapper (sirFAST) for the CG technology based on the seed-and-extend paradigm that
can quickly map CG reads to a reference genome. We evaluate the performance and
accuracy of sirFAST using both simulated and publicly available real data sets,
showing high precision and recall rates.