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:

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...

27
AUG

eMERGE Network is excited to share that the MCS NT244, Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network; was published on August 22nd to American Journal of Human...