Consensus label propagation with graph convolutional networks for single-cell RNA sequencing cell type annotation
Daniel's paper is now available online in Bioinformatics. Congratulations!
OHSU researchers assemble comprehensive atlas of human gene mutations
With hundreds of tissue donors, it is the most extensive guide ever created; could lead to better diagnosis, treatment of diseases associated with ‘bad luck or bad habits’
The origins and functional effects of postzygotic mutations throughout the human life span
Former grad student Nicole's paper on detecting and analyzing PZMs in GTEx data is now available online in Science. Congratulations!
Diverse monogenic subforms of human spermatogenic failure
Our main GEMINI paper is now available online in Nature Communications. Congratulations to all!
SATINN: An automated neural network-based classification of testicular sections allows for high-throughput histopathology of mouse mutants
Ran and Ana's paper is now available online in Bioinformatics. Congratulations!
Describing the origins and effects of the mutations that occur in normal individuals: How the telephone game plays out inside the human body
By Nicole Rockweiler In the children's game of telephone, one person whispers a message to a second person and then that person whispers the message to a third person and so on. At the end of the game, the original message is compared to last message. This game plays out…
Comparative single-cell analysis of biopsies clarifies pathogenic mechanisms in Klinefelter syndrome
Eisa's paper is now available online in American Journal of Human Genetics. Congratulations!
Variant PNLDC1, Defective piRNA Processing, and Azoospermia
Liina's paper with GEMINI collaborators is now available in New England Journal of Medicine. The paper describes our discovery of PNLDC1 as a new male infertility gene. One really interesting aspect is that we were able to use small RNA sequencing of testis tissue from the patients to confirm defective…
Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure
Another paper by the GEMINI Consortium is available online in Human Genetics. Congratulations to all!
Lack of evidence for a role of PIWIL1 variants in human male infertility
GEMINI collaborators publish letter in Cell disputing previously published data claiming the role of PIWIL1 D-box region mutations in human azoospermia. The article is now available online. Congratulations!
The Sertoli cell expressed gene secernin-1 (Scrn1) is dispensable for male fertility in the mouse
The latest paper from GEMINI collaborators investigating the role of Scrn1 in male fertility is now available online in Developmental Dynamics. Congratulations to all!
The genetic architecture of sporadic and multiple consecutive miscarriage
Don's paper with collaborators at WashU - describing GWAS meta-analyses for sporadic and multiple consecutive miscarriage - is now available online in Nature Communications. Congratulations!
Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia
The latest paper from GEMINI collaborators, in which exome sequencing of an affected family as well as unrelated cases suggests an important role of MTC genes in non-obstructive azoospermia, is now available online in Human Genetics. Congratulations to all!
Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia
Don’s paper with collaborators at UNC and WashU is a nice example of how whole exome sequencing and bioinformatic analysis can be effectively used to identify pathogenic variants in rare genetic diseases. The article is now available online in PLoS Genetics. Congratulations!
Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men
Don and Liina's paper with GEMINI collaborators shows promise for the clinical utility of a pre–testicular sperm extraction (TESE) prognostic gene panel. The article is now available online in Genetics in Medicine. Congratulations!
Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility
Don and Liina’s paper with GEMINI collaborators, in which whole exome sequencing was performed on 58 men, is now available online in the American Journal of Human Genetics. Congratulations!
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!
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!
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! In this paper, Lee et al. performed a series of rare variant analyses across more than 73,000 women and men to identify genes that contribute to…
New computational method could advance precision medicine
Min's single-cell paper was profiled by OHSU news. Congratulations Min and Don!