Genetic effects on gene expression across human tissues
The paper by Don and collaborators from the GTEx Consortium is now published online at Nature. Congratulations! Abstract Characterization of the molecular function of the human genome and its variation across individuals is essential for identifying the cellular mechanisms that underlie human genetic traits and diseases. The Genotype-Tissue Expression (GTEx) project aims to characterize variation […]
Bi-allelic recessive loss-of-function variants in FANCM cause non-obstructive azoospermia
Liina’s paper with GEMINI collaborators is now online at American Journal of Human Genetics. Congratulations! Abstract Infertility affects around 7% of men worldwide. Idiopathic non-obstructive azoospermia (NOA) is defined as the absence of spermatozoa in the ejaculate due to failed spermatogenesis. There is a high probability that NOA is caused by rare genetic defects. In this study, whole-exome […]
Genetic intersection of male infertility and cancer
Liina’s latest paper is now online at Fertility & Sterility. Congratulations, Liina! Abstract Recent epidemiological studies have identified an association between male factor infertility and increased cancer risk, however, the underlying etiology for the shared risk has not been investigated. It is likely that much of the association between the two disease states can be attributed to underlying […]
Dynamic landscape and regulation of RNA editing in mammals
Avi, Ni and Don’s paper with collaborators from the GTEx Consortium is now published online at Nature. Congratulations, Avi, Ni and Don! Abstract Adenosine-to-inosine (A-to-I) RNA editing is a conserved post-transcriptional mechanism mediated by ADAR enzymes that diversifies the transcriptome by altering selected nucleotides in RNA molecules1. Although many editing sites have recently been discovered2,3,4,5,6,7, the extent […]
A standardized approach for multispecies purification of mammalian male germ cells by mechanical tissue dissociation and flow cytometry
Ana and Min’s manuscript is now online at JOVE. Congratulations Ana, Min, Jannette and Abul! Abstract Fluorescence-activated cell sorting (FACS) has been one of the methods of choice to isolate enriched populations of mammalian testicular germ cells. Currently, it allows the discrimination of up to 9 murine germ cell populations with high yield and purity. […]
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 […]