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Institute Affiliation:
Contact Information:
Email:
eeskin@cs.ucsd.edu
Personal Home Page
| | Eleazar Eskin - Assistant Professor in Residence
Computational biology and bioinformatics, and specifically, analysis of human variation and its relation to
complex disease.
Professor Eskin's research focuses development of computational tools and methodologies for the analysis of
high-throughput genomic data in order to discover the genetic basis of human disease. His research focuses on
developing statistical genetics approaches that analyze human variation data such single nucleotide polymorphisms
(SNPs) over populations of healthy and diseased individuals to identify variation potentially implicated in disease.
These analyses are combined with bioinformatics approaches over other types of genomic data, including gene expression
data and comparative genomics to better understand the function of the variation, to create a more complete view of the
relation between human variation and human disease. Deciphering the genetic architecture of complex traits also
provides insights into evolutionary processes such as mutation, recombination, and natural selection.
He co-developed HAP, a highly accurate method for haplotype resolution from genotype data which was the basis
for several high profile collaborations including a collaboration with Perlegen Sciences published on the Feb 18th,
2005 cover of Science describing the first whole-genome scale analysis of human variation. This study analyzed 1.5
million variable positions (SNPs) in the human genome over 71 individuals from three populations. Due to the
efficiency of HAP algorithm, in a collaboration with the National Center for Biotechnology Information (NCBI), HAP was
applied to the entire polymorphism database, dbSNP containing over 286 million genotypes, over 15 gigabytes of data
effectively doubling the size of the database. The results of the collaboration were published in the November 2005
special issue of Genome Research on Human Variation, coinciding with the publication of the HapMap paper in Nature.
Capsule Bio:
Prior to joining the CSE department in 2003, Eleazar Eskin was a post-doctoral researcher at the Hebrew University of
Jerusalem in computer science with professors Yoram Singer and Nir Friedman. He completed his Ph.D. in Computer Science
at Columbia University in 2002, where he did his thesis on "Sparse Sequence Modeling with Applications to Computational
Biology and Intrusion Detection" under the supervision of Professor Sal Stolfo.
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