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Knome Awards Human Exome Sequencing and Analysis to Biomedical Researchers
Date:10/5/2010

ch families.  He will then be able to validate whether newly identified cancer-implicated variants turn up in other cancer-prone families too.  In doing so, he stands to refine our understanding of how breast tumors form and spread and to point the way toward better personalized treatment strategies.

"Genome sequencing and analysis are quickly becoming essential tools in efforts to understand, treat, and cure cancers," noted Dr. Friedman. "Well-integrated analysis services like Knome's can help researchers immensely by quickly drilling down to candidate variants that can catalyze vital insights."

Linking a rare disease to an enduringly familiar mystery

In the clinical genetics work at University College Dublin, post-doctoral fellow Judith Conroy, PhD, encountered two Irish families who share a remarkable circumstance. Each family has a set of triplets, in which only two children are 'identical' twins, and both have a rare developmental syndrome called Facio-audio-symphalangism (FAS).

Because none of the children carry a suspicious version of any gene implicated in FAS, Dr. Conroy reasoned that their cases might trace to a previously unsuspected part of the genome.  Moreover, she wondered whether the same part of the genome might also play a key role in the familiar, but biologically mysterious, process of twinning.  

Scientists have long noted that twinning runs in some families, suggesting that it may involve heritable genetic variation. Despite millennia of fascination, however, human twinning is still poorly understood.  To cast light on the two seemingly disparate phenomena of FAS and twinning, Dr. Conroy will use KnomeDISCOVERY™ to compare the genes of one twin from each of the two FAS families in order to identify distinctive spelling variants that could cause the disease. In the process, her research may also advance our understanding of the biolog
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