Inheritance-mode specific pathogenicity prioritization (ISPP) for human protein coding genes

Conclusion: The inheritance-mode specific pathogenicity prioritization (ISPP) outperformed other well-known methods including Haploinsufficiency, Recessive, Network centrality, Genic Intolerance, Gene Damage Index and Gene Constraint scores. This systematic study suggests that genes manifesting disease inheritance modes tend to have unique characteristics. Availability and implementation: ISPP is included in KGGSeq v1.0 (http://grass.cgs.hku.hk/limx/kggseq/), and source code is available from (https://github.com/jacobhsu35/ISPP.git). Contact: mxli@hku.hk Supplementary information: Supplementary data are available at Bioinformatics online.

http://bioinformatics.oxfordjournals.org/cgi/content/short/32/20/3065?rss=1

Source: Bioinformatics - October 2, 2016 Category: Bioinformatics Authors: Hsu, J. S., Kwan, J. S. H., Pan, Z., Garcia-Barcelo, M.-M., Sham, P. C., Li, M. Tags: GENOME ANALYSIS Source Type: research

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