XHMM
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  • Menachem Fromer, Jennifer L. Moran, Kimberly Chambert, Eric Banks, Sarah E. Bergen, Douglas M. Ruderfer, Robert E. Handsaker, Steven A. McCarroll, Michael C. O'Donovan, Michael J. Owen, George Kirov, Patrick F. Sullivan, Christina M. Hultman, Pamela Sklar, and Shaun M. Purcell. Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth. American Journal of Human Genetics, 91:597-607, Oct 2012.

  • Christopher S. Poultney, Arthur P. Goldberg, Elodie Drapeau, Yan Kou, Hala Harony-Nicolas, Yuji Kajiwara, Silvia De Rubeis, Simon Durand, Christine Stevens, Karola Rehnstrom, Aarno Palotie, Mark J. Daly, Avi Ma'ayan, Menachem Fromer, and Joseph D. Buxbaum. Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. American Journal of Human Genetics, 93(4):607-619, 2013.

  • Menachem Fromer and Shaun M. Purcell. Using XHMM software to detect copy number variation in whole-exome sequencing data. In Current Protocols in Human Genetics. John Wiley and Sons, Inc., 2014.
XHMM is developed by Menachem Fromer and Shaun Purcell at Mount Sinai School of Medicine, The Broad Institute of MIT and Harvard, Analytic and Translational Genetics Unit (ATGU) at Massachusetts General Hospital

Please send questions to: The XHMM users group.