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:

11
JUN

The NHGRI will hold a pre-application interactive Q&A webinar for the eMERGE Genomic Risk Assessment and Management Network funding opportunities on Thursday, June 13th at 1:00 pm-2:00 pm EST....

02
MAY

The CC is pleased to announce that the eMERGEseq Freeze 1 Dataset submission to dbGaP is now available and can be accessed online. The study has been added to our dbGaP study page. Study...

06
DEC

eMERGE Network is excited to share that Taryn Hall's project, Unfolding of hidden white blood cell count phenotypes for gene discovery using latent class mixed modeling; was published in Genes...

20
JUL

eMERGE Network is excited to share that Dr. Douglas Pet's project, Physicians Raise Concerns on Receiving Unsolicited Genomic Results; was published in Genetics in Medicine. The publication...