KGGSeq is designed to make use of biological knowledge and statistical models to identify genetic loci responsible for human diseases/traits by high-throughput sequencing data. Compared with other tools like PLINK/Seq (“A library for the analysis of genetic variation data”, http://atgu.mgh.harvard.edu/plinkseq/), KGGSeq focuses more on integrative downstream analysis. Since version 1.0, it has been equipped with a series of integrative methods for characterizing genetic mutations/polymorphsim of Mendelian disorders, complex disorders and cancers by using whole genome sequencing data and versatile public resources .

https://idc.biosino.org/kggseq/doc10/demov10.mp4

KGGSeq V1.0+

Important new features of KGGSeq v1.0+ you may be interested in:
1. Improved capacity to process whole genome sequencing data of large sample IN PARALLEL with REASONABLE AMOUNT of memory, say, < 10GB;
2. Pathogenic prediction for complex diseases at genes and non-coding variants;
3. Statistic tests for mutation rate and association at genes;
4. All in all, it is a comprehensive unified framework for high-throughput sequencing study of human traits, from quality control, filtering, annotation and statistic test.