FredSanto

Really excited to share our latest paper! We combined the largest-to-date sex-specific eQTL and GWAS data to investigate the role of gene expression in the sexual dimorphism of several human phenotypes. I presented it yesterday @EMGM2020 and now it's online!

Our new study on Nature Communications: "Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance" disq.us/t/3ioxy02

Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts pnas.org/content/early/…

Time and space dimensions of gene dosage imbalance of aneuploidies revealed by single cell transcriptomes. biorxiv.org/content/early/…

The greatest enemy of knowledge is not ignorance, it is the illusion of knowledge.

UNIGE researchers develop new technique to improve diagnosis of genetic diseases scifeeds.com/news/unige-res…

Researchers at @UNIGEnews have devised a genomic technique for identifying new imprinted gene. ow.ly/J9d63093t47

@nature we knew already nature.com/articles/ncomm…

Extrachromosomal oncogene amplification drives tumour evolution and genetic heterogeneity, according to a new study go.nature.com/2kc6Qk9

Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression cell.com/ajhg/fulltext/…