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Why we do not have an integrated bioinformatics database and software package manager?In fact, there are already some tools can complete part of the work: Conda and Bio Conda have done a lot of work and we can use them to conveniently install some of the bioinformatics software.However, this method of library construction remains time-consuming, costly and limited to very small genomic regions (5 kbp-1 Mbp) and is impractical for genetic dissection of disease linked loci which can span 10 Mb or more.The development of molecular inversion probes (MIPs) and the use of chip-based technologies for massively parallel capture of specific genomic targets is limited by representational and allelic bias and remains costly and time consuming [].The outcome of this is to increase the throughput and significantly reduce the cost of resequencing disease-linked loci in large cohorts.Our experimental data describes a cost effective, high throughput method for region-specific, multiplex sequencing by combining genome partitioning and barcode indexing with NGS technology.However, while those platforms improve the capacity to find novel variations that are not covered by existing genotyping arrays, they do not make use of the existing data, composed of thousands of relatively small genomic regions that have been associated with diseases through the use of genome wide association and linkage studies, where isolation of causative genetic variants has been problematic.The efficiency of NGS-mediated genotyping has recently been improved through employing amplicon libraries of long-range PCR, which encompass discrete genomic intervals [].

Our work describes the successful combination of a targeted enrichment method and index barcode multiplexing to reduce costs, time and labour associated with processing large sample sets.

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Furthermore, learning how to install and compile bioinformatics software is still necessary, because these 'unpleasant' experience will help you to improve the ability to debug and modify programs.

After localisation of the linkage region, efficient genetic dissection of the disease linked loci requires that functional variants are identified across the loci.

These functional variations are difficult to detect due to extent of genetic diversity and, to date, incomplete cataloguing of the large number of variants present both within and between populations.

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