A framework for high-resolution phenotyping of candidate male infertility mutants: from human to mouse
Don’s paper with GEMINI collaborators at Monash University in Australia is now available online at Human Genetics. The paper presents a best practice guide when using the mouse as a model for male infertility, specifically as it relates to interpreting NGS data from infertile men and categorizing infertility types. Congratulations! Abstract Male infertility is a heterogeneous […]
Identification of Genetic Variants in CFAP221 as a Cause of Primary Ciliary Dyskinesia
Don and Wu-Lin’s paper with collaborators at UNC – describing work they did to use PSAP to find a novel cause of PCD – is now available online in the Journal of Human Genetics. Congratulations! Abstract Primary ciliary dyskinesia (PCD) is a rare disorder that affects the biogenesis or function of motile cilia resulting in […]
Rare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility
After many years of hard work, Arthur’s paper, identifying the role of CSMD1 in gametogenesis, is now available online at Nature Communications. Congratulations Arthur! Abstract Infertility in men and women is a complex genetic trait with shared biological bases between the sexes. Here, we perform a series of rare variant analyses across 73,185 women and […]
New computational method could advance precision medicine
Min’s single-cell paper was profiled by OHSU news. Congratulations Min and Don!
Unified single-cell analysis of testis gene regulation and pathology in five mouse strains
Min’s paper, describing a model-based factor analysis method to analyze a novel 57, 600-cell dataset from wildtype and mutant mouse testes, is now available online at eLife. Congratulations Min! Abstract To fully exploit the potential of single-cell functional genomics in the study of development and disease, robust methods are needed to simplify the analysis of […]
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. […]