Mapping whole-organism genetic comorbidities across model Species using unified ontologies
Caitlin’s paper is now available in Genetics. Congratulations! Abstract Understanding how genetic variation contributes to organism-wide phenotypes is critical for identifying mechanisms of disease. Here, we present a computational approach to analyze whole-organism comorbidities associated with genes underlying non-obstructive azoospermia (NOA), the most severe form of male infertility. We curated 204 mouse genes with experimentally […]
A partially automated method for DNA extraction from marmoset hair follicles to avoid blood chimerism
Alexandra’s paper is now available in Frontiers in Genetics. Abstract Marmosets are valuable non-human primate models, however their unique reproduction results in high levels of blood chimerism, making blood unreliable for DNA sequencing. Hair follicles have lower levels of chimerism however DNA extraction from hair follicles is challenging due to the limited tissue. We developed […]
The rising role of genetics in andrology research and clinical practice
Don’s editorial with GEMINI collaborators Maris Laan and Ki Aston is now available in Andrology‘s Special Issue: Genetics in Andrology. Congratulations!
Genetic and genomic insights into male reproductive tract development
Madison and Helen’s review is now available online in Fertility and Sterility. Congratulations! Abstract Genetic and genomic analysis continues to drive important insights into male reproductive tract (MRT) development. Here, we briefly review normal MRT development, highlighting recent discoveries of cell types and cellular processes delivered by single-cell sequencing. We report a systematic review of […]
SATINN v2: automated image analysis for mouse testis histology with multi-laboratory data integration
Ran’s latest paper is now available on Biology of Reproduction. Congratulations! Abstract Analysis of testis histology is fundamental to the study of male fertility, but it is a slow task with a high skill threshold. Here, we describe new neural network models for the automated classification of cell types and tubule stages from whole-slide brightfield […]
Deletion of an evolutionarily conserved TAD boundary impacts spermatogenesis in mice
Ana’s paper is now available online in Biology of Reproduction. Congratulations! Abstract Spermatogenesis is a complex process that can be disrupted by genetic and epigenetic changes, potentially leading to male infertility. Recent research has rapidly increased the number of protein coding mutations causally linked to impaired spermatogenesis in humans and mice. However, the role of […]
The human and non-human primate developmental GTEx projects
dGTEx marker paper is now available online in Nature and has been featured by OHSU News. Congratulations to all! Abstract Many human diseases are the result of early developmental defects. As most paediatric diseases and disorders are rare, children are critically underrepresented in research. Functional genomics studies primarily rely on adult tissues and lack critical […]
Estimating realized relatedness in free-ranging macaques by inferring identity-by-descent segments
The latest NHP paper with contributions from the lab is now available online in PNAS. Congratulations! Significance Genetic relatedness plays a central role in ecology and evolution, but estimating it with high accuracy remains challenging. We established and validated a software pipeline that produces precise relatedness estimates for low-depth sequencing data by measuring the identical […]
Utility of exome sequencing in primary spermatogenic disorders: From research to diagnostics
Antoni and Liina’s review is now available online in Andrology. Congratulations! Abstract Background Primary spermatogenic disorders represent a severe form of male infertility whereby sperm production is impaired due to testicular dysfunction, leading to reduced quality or quantity of spermatozoa. Gene-centered research has certainly demonstrated the importance of the genetic factor in the etiology of […]
Introduction to androgenetics: terminology, approaches, and impactful studies across 60 years
Arvand’s review with Dr. Maris Laan from the University of Tartu in Estonia is now available online in Andrology. This is article is part of a Special Issue of Andrology “Genetics in Andrology. Congratulations! Abstract Across six decades, androgenetics has consistently concentrated on discovering genetic causes and enhancing the molecular diagnostics of male infertility, disorders […]