Human Genomics in Development and Disease

Genetic Variation in Human Populations

We have characterized genetic variation in a number of human populations (Hispanics and Latinos, Jewish HapMap Project) to understand the origins and migrations of these populations.

Currently, we are exploring the role of natural selection in the formation of some of these populations. We are carrying the work forward to understand disease susceptibilities within these groups.  A key feature of this work is translating new findings into practice to promote personalized medicine.

Jewish Populations Revise HL PopulationsNEW



Recent Publications


Bryc K, Velez C, Karafet T, Moreno-Estrada A, Reynolds A, Auton A, Hammer M, Bustamante CD, Ostrer H. Genome-wide patterns of population structure and admixture among Hispanic/Latino populations. Proc Natl Acad Sci USA. 107 Suppl 2:8954-61, 2010.

Atzmon G, Hao L, Pe'er I, Velez C, Pearlman A, Palamara PF, Morrow B, Friedman E, Oddoux C, Burns E, Ostrer H. Abraham’s children in the Genome Era: Major Jewish Diaspora populations comprise distinct genetic clusters with shared Middle Eastern ancestry. Am J Hum Genet. 86:850-9, 2010.

Pearlman, A. Loke J, Le Caignec, C, White, S, Chin L, Friedman A, Warr N, Willan J, Brauer D, Farmer C, Brooks E, Oddoux C, Riley B, Shajahan S, Camerino G, Homfray T, Crosby A, Couper J, David A, Greenfield A, Sinclair A, Ostrer H. Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination. Am J Hum Genet. 87:898-904, 2010.

Pearlman A, Campbell C, Brooks E, Genshaft A, Shajahan S, Ittman M, Bova GS, Melamed J, Holcomb I, Schneider RJ, Ostrer H. Clustering-based method for developing a genomic copy number alteration signature for predicting the metastatic potential of prostate cancer. J Prob Stat 2012; 873570, 2012.

Loke J, Ostrer H. Rapidly screening variants of uncertain significance in the MAP3K1 gene for phenotypic effects. Clin Genet. 81:272-7, 2012

Campbell CL, Palamara PF, Dubrovsky M, Botigué LR, Fellous M, Atzmon G, Oddoux C, Pearlman A, Hao L, Henn BM, Burns E, Bustamante CD, Comas D, Friedman E, Pe'er I, Ostrer H. North African Jewish and non-Jewish populations form distinctive, orthogonal clusters. Proc Natl Acad Sci U S A. 109:13865-70, 2012.

Kerns SL, Stone NN, Stock RG, Rath L, Ostrer H, Rosenstein BS. A 2-stage genome-wide association study to identify single nucleotide polymorphisms associated with development of urinary symptoms after radiotherapy for prostate cancer. J Urol 190:102-8, 2013.

Loke J, Pearlman A, Radi O, Zuffardi O, Giussani U, Pallotta R, Camerino G, Ostrer H. Mutations in MAP3K1 tilt the balance from SOX9/FGF9 to WNT/β-catenin signaling. Hum Mol Genet. 23:1073-83, 2014.


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