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:

24
MAR

Two companion RFAs for the PRS Diversity Consortium are now published:

  • Polygenic Risk Score (PRS) Methods and Analysis...

27
FEB

Notice to Encourage Eligible NHGRI Awardees to Apply for PA-18-906 "Research Supplements to Promote Diversity in Health-Related Research”

The Notice of Special Interest (NOSI) on Development of Statistical, Population Genetics, and Computational Methods Related to Polygenic Prediction of Health and Disease in...

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...