Genome-wide significance testing of variation from single case exomes

Amy’s n=1 paper is now online at Nature Genetics. Congratulations! Abstract Standard techniques from genetic epidemiology are ill-suited to formally assess the significance of variants identified from a single case. We developed a statistical inference framework for identifying unusual functional variation from a single exome or genome, what we refer to as the ‘n-of-one’ problem. […]

Multispecies purification of testicular germ cells

Ana & Min’s paper is now online at Biology of Reproduction. Congratulations! Abstract Advanced methods of cellular purification are required to apply genome technology to the study of spermatogenesis. One approach, based on flow cytometry of murine testicular cells stained with Hoechst-33342 (Ho-FACS), has been extensively optimized and currently allows the isolation of 9 germ […]