Resource Library

Genotyping Tools

 

PennCNV – Implements a hidden Markov model that integrates multiple sources of information to infer CNV calls for individual genotpes samples, widely-used.

Biofilter, Biobin – Provides methods for prioritizing and analyzing variants singly or in groups.

PLATO, ATHENA – Provides platforms for QC and integrating multiple methods of analysis.

Synthesis-View, PheWAS-View and Phenogram provides visualization tools for genome and phenome-wide data=. These tools are also offered via a web interface at http://visualization.ritchielab.psu.edu/.

In the News

Here's what's happening with eMerge:

22
NOV

The NHGRI has begun its recruitment cycle for Program Analysts which will begin Summer 2020. Here you will find the job description for Scientific Program Analysts. The...

08
OCT

NIH Office of Disease Prevention’s 2020 Early Stage Investigator Lecture

Call for Nominations!

Office...

08
OCT

Health Data Management (10/8) reports that National Library of Medicine (NLM) Director Patricia Flatley Brennan “told a House appropriations subcommittee late last month that NLM is working on tools...

29
AUG

Headed to ASHG in Houston this October? NHGRI is hosting a free ancillary workshop that will help clear up some of the mysteries of applying for grants at the NIH! The Early...