Main logo
?
tutorial arrow
×
Create your own tool library
Bookmark tools and put favorites into folders to find them easily.

KGGSeq | A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases

A three-level filtration and prioritization framework to identify the casual mutation(s) in exome sequencing studies. This efficient and comprehensive framework successfully narrowed down whole exome variants to very small numbers of candidate variants in the proof-of-concept examples. The proposed framework will play a very useful role in exome sequencing-based discovery of human Mendelian disease genes.

User report

tutorial arrow
×
Vote up tools and offer feedback
Give value to tools and make your expertise visible
Give your feedback on this tool
Sign up for free to join and share with the community

0 user reviews

star_border star_border star_border star_border star_border
star star star star star

0 user reviews

star_border star_border star_border star_border star_border
star star star star star

No review has been posted.

KGGSeq forum

tutorial arrow
×
Communicate with other users
Participate in the forum to get support for using tools. Ask questions about technical specifications.
Take part in the discussion
Sign up for free to ask question and share your advices

No open topic.

KGGSeq classification

  • Animals
    • Homo sapiens

KGGSeq specifications

Unique identifier:
OMICS_02260
Interface:
Graphical user interface
Operating system:
Unix/Linux
Version:
0.8
Maintained:
Yes
Software type:
Package/Module
Restrictions to use:
None
Computer skills:
Medium
Stability:
Stable

Subtools

  • ISPP

KGGSeq distribution

versioning

tutorial arrow
×
Upload and version your source code
Get a DOI for each update to improve tool traceability. Archive your releases so the community can easily visualize progress on your work.
Facilitate your tool traceability
Sign up for free to upload your code and get a DOI

No versioning.

download

KGGSeq support

Maintainer

  • Miaoxin Li <>

Credits

tutorial arrow
×
Promote your skills
Define all the tasks you managed and assign your profile the appropriate badges. Become an active member.
Promote your work
Sign up for free to badge your contributorship

Publications

Institution(s)

Department of Psychiatry; State Key Laboratory for Cognitive and Brain Sciences; Centre for Reproduction, Development and Growth; Genome Research Centre; Department of Medicine; Department of Biochemistry, University of Hong Kong, Pokfulam, Hong Kong, China

By using OMICtools you acknowledge that you have read and accepted the terms of the end user license agreement.