Tools

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:

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...

14
MAY

CDC's new blog post: Precision Medicine in Action: How well does cascade screening for hereditary conditions work in the real world? Posted on May 8, 2018 by 

23
APR

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