Pauline NG

Group Leader
Chief Informatics Officer, Polaris


Positions available! Please email me directly with your resume.

The major research focus of my group is understanding the relationship between genotype and phenotype. This includes research in personalized medicine, understanding disease mutations, and working with next-generation sequencing technologies and protein sequence.

Personalized Genomics
I have analyzed the personal genome of Craig Venter in great detail. I have shown that genome sequencing can help improve individual drug prescriptions by studying Dr. Craig Venter’s and Dr. Jim Watson’s genomes. I have also recommended guidelines to direct-to-consumer genetic companies such as 23andMe and Navigenics for improving disease risk predictions.

Understanding Disease Mutations
A large proportion of Mendelian disease can be attributed to mutations in coding genes. I created the SIFT algorithm (http://sift-dna.org) to predict the effect an amino acid substitution has on protein function. The SIFT algorithm is often applied to nonsynonymous variants.

As a Senior Bioinformaticist at Illumina, I designed the content for the microarrays used in genome-wide association studies. Later, I assessed next-generation sequencing technologies to observe what can be expected of the new technologies.


  • 2009-2010 SAIC Contract: High throughput next generation sequencing of T cell receptors

    2008-2010 NHGRI R01 grant: Continued Development and Maintenance of Software

    2009 Most viewed BioMed Central article (in top 10 for the year)

    2005 Illumina Values Award

    2002 Scholarship winner, Keystone Symposia: Human Genetics and Genomics

    1999-2002 Department of Energy Computational Science Graduate Fellowship

    1998-1999 National Science Foundation Fellowship

    1996-1998 Tau Beta Pi Engineering Honor Society

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