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Colloquia

Rare Disorders Analysis: Prediction Challenges and Applications

Speaker: Asif Javed
Genome Institute of Singapore, A*STAR

May 16, 2017, 11:00 am
Location: Troy 2018
Hosted By: Dr. Mohammed Zaki (x6340)

Abstract:

Rare disease analysis is an area of intense focus in both clinical and research domains. On clinical side, the societal impact can be immediate in bringing the diagnostic odyssey of a family to its conclusion. On the research side, these extreme phenotypes provide key insight to better understanding disease biology; even for their more common counterparts. An analysis challenge remains in the small sample size (often <10 families). Each individual genome harbors hundreds of potential rare disease causal variants. Sifting these variants to identify the true cause of the condition is an analytical challenge. In this talk, I will present our algorithmic framework Phen-Gen to aid this effort (Nature Methods 2014). I will also present two of our recent success stories; BAMS characterised by congenital absence of nose (Nature Genetics 17) and ROSAH a midlife onset progressive condition (unpublished). Time permitting I will venture into some other research areas where a marriage of computation and omics could lead to collaborative opportunities.

Bio:

Asif Javed is a research scientist at Genome Institute of Singapore, A*STAR. His research focuses on computational biology with an emphasis on clinical applications. He has co-authored 50 publications including high impact journals like Nature Methods, Nature Genetics, and Genome Research. He is an RPI alum who received his PhD from the computer science department in 2008.

Last updated: May 3, 2017



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