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2016 ; 135
(6
): 603-14
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Novel bioinformatic developments for exome sequencing
#MMPMID27075447
Lelieveld SH
; Veltman JA
; Gilissen C
Hum Genet
2016[Jun]; 135
(6
): 603-14
PMID27075447
show ga
With the widespread adoption of next generation sequencing technologies by the
genetics community and the rapid decrease in costs per base, exome sequencing has
become a standard within the repertoire of genetic experiments for both research
and diagnostics. Although bioinformatics now offers standard solutions for the
analysis of exome sequencing data, many challenges still remain; especially the
increasing scale at which exome data are now being generated has given rise to
novel challenges in how to efficiently store, analyze and interpret exome data of
this magnitude. In this review we discuss some of the recent developments in
bioinformatics for exome sequencing and the directions that this is taking us to.
With these developments, exome sequencing is paving the way for the next big
challenge, the application of whole genome sequencing.