| 研究実績の概要 |
We have finished exome sequencing on all families planned to be included in this study. We have established bioinformatic pipeline for NGS data analysis both in terms or required hardware and software. W have two high performance LINUX based workstation that we are using for data analysis. We have set up industry standard software for data analysis including BWA, PICARD, GATK and ANNOVAR. We applied quality controls filters and insilico prediction analysis. Using that pipeline we have identified reasonable number of candidate variants. Furthermore we have analysed different transmission patterns of the variants focusing on de-novo or co-segregatered variants.
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