The impact of structural variation on human gene expression

Don’s paper with collaborators from Dr. Ira Hall’s lab is now online at Nature. Congratulations! Abstract Rare genetic variants are abundant in humans and are expected to contribute to individual disease risk. While genetic association studies have successfully identified common genetic variants associated with susceptibility, these studies are not practical for identifying rare variants. Efforts […]

Multiplex shRNA screening of germ cell development by in vivo transfection of mouse testis

Nic and Abul’s paper is now online at G3 Genes | Genomes | Genetics. Congratulations! Abstract Spermatozoa are one of the few mammalian cell types that cannot be fully derived in vitro, severely limiting the application of modern genomic techniques to study germ cell biology. The current gold standard approach of characterizing single-gene knockout mice is […]

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 […]