KGGSeq: A biological Knowledge-based mining platform for Genomic and Genetic studies using Sequence data
 

 

 

 

Links of MX Li's tools:
 

KGGSeq is a software platform constituted of Bioinformatics and statistical genetics functions making use of valuable biologic resources and knowledge for sequencing-based genetic mapping of variants/genes responsible for human diseases/traits. Simply, KGGSeq is like a fishing rod facilitating geneticists to fish the genetic determinants of human diseases/traits in the big sea of DNA sequences. Compared with other genetic tools like plink/seq, KGGSeq paid more attention downstream analysis of genetic mapping. Currently, a comprehensive and efficient framework was newly implemented on KGGSeq to filter and prioritize genetic variants from whole exome sequencing data.

KGGSeq has been released! Donwload it!

Some Points of KGGSeq you may be interested in:

1. High efficiency in handling huge amount of sequencing data in VCF format or summary result format of plink/seq.
2. Prioritization of variants/genes by protein-protein interaction and pathway information.
3. Automatically retrieving literature information form NCBI PubMed database to highlight variants/genes.

Comments and suggestions are welcome, please e-mail limx54@yahoo.com
Reference:
    Li MX, Gui HS, Kwan JS, Bao SY, Sham PC. A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases. Nucleic Acids Res. 2012 Jan 12. [Epub ahead of print] PubMed
   
 
 

Miao-xin Li, Department of Psychiatry, The University of Hong Kong, All rights reserved.