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Next generation sequencing technology and genomewide data analysis: Perspectives
for retinal research
#MMPMID27297499
Chaitankar V
; Karakülah G
; Ratnapriya R
; Giuste FO
; Brooks MJ
; Swaroop A
Prog Retin Eye Res
2016[Nov]; 55
(?): 1-31
PMID27297499
show ga
The advent of high throughput next generation sequencing (NGS) has accelerated
the pace of discovery of disease-associated genetic variants and genomewide
profiling of expressed sequences and epigenetic marks, thereby permitting
systems-based analyses of ocular development and disease. Rapid evolution of NGS
and associated methodologies presents significant challenges in acquisition,
management, and analysis of large data sets and for extracting biologically or
clinically relevant information. Here we illustrate the basic design of commonly
used NGS-based methods, specifically whole exome sequencing, transcriptome, and
epigenome profiling, and provide recommendations for data analyses. We briefly
discuss systems biology approaches for integrating multiple data sets to
elucidate gene regulatory or disease networks. While we provide examples from the
retina, the NGS guidelines reviewed here are applicable to other tissues/cell
types as well.
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