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2016 ; 9
(ä): 16
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Visual programming for next-generation sequencing data analytics
#MMPMID27127540
Milicchio F
; Rose R
; Bian J
; Min J
; Prosperi M
BioData Min
2016[]; 9
(ä): 16
PMID27127540
show ga
BACKGROUND: High-throughput or next-generation sequencing (NGS) technologies have
become an established and affordable experimental framework in biological and
medical sciences for all basic and translational research. Processing and
analyzing NGS data is challenging. NGS data are big, heterogeneous, sparse, and
error prone. Although a plethora of tools for NGS data analysis has emerged in
the past decade, (i) software development is still lagging behind data generation
capabilities, and (ii) there is a 'cultural' gap between the end user and the
developer. TEXT: Generic software template libraries specifically developed for
NGS can help in dealing with the former problem, whilst coupling template
libraries with visual programming may help with the latter. Here we scrutinize
the state-of-the-art low-level software libraries implemented specifically for
NGS and graphical tools for NGS analytics. An ideal developing environment for
NGS should be modular (with a native library interface), scalable in
computational methods (i.e. serial, multithread, distributed), transparent
(platform-independent), interoperable (with external software interface), and
usable (via an intuitive graphical user interface). These characteristics should
facilitate both the run of standardized NGS pipelines and the development of new
workflows based on technological advancements or users' needs. We discuss in
detail the potential of a computational framework blending generic template
programming and visual programming that addresses all of the current limitations.
CONCLUSION: In the long term, a proper, well-developed (although not necessarily
unique) software framework will bridge the current gap between data generation
and hypothesis testing. This will eventually facilitate the development of novel
diagnostic tools embedded in routine healthcare.