🔥The 9th Round of Easy Loan, Earn $40 Reward is in progress❗️ ⏰ Promotion Period: January 15th - Feburary 15th, 2025 👉 Register now and check more details at gate.io/campaigns/358

Congrats!! 🥳🥳🥳

Altered X-chromosome inactivation of the TLR7/8 locus and heterogeneity of pDCs in systemic sclerosis. New study by Yong Du, Bérénice Faz-Lopez, Jean-Charles Guéry (GUERY Jean-Charles) Université de Toulouse, Franck Barrat Hospital for Special Surgery (HSS) and colleagues: hubs.ly/Q02_C96b0 #Autoimmunity

Autosomal random monoallelic expression drives incomplete penetrance of inborn errors of immunity, highlighting the importance of considering both genotype and the ‘transcriptotype’ in monogenic disorders nature.com/articles/s4158… Dusan Bogunovic nature O'Jay Stewart

Building on the great work of Taru Tukiainen, we find two additional completely skewed females in GTEx Portal. Using this unique genetic data we generate "A whole-organism landscape of X-inactivation in humans"! doi.org/10.7554/eLife.… eLife - the journal. Great detective work by Björn Gylemo 🥳🙏

Largescale changes in the genome inherited from parents are significant risk factors for pediatric solid tumors, a new Science study finds. The results provide new insights into the genetic underpinnings of pediatric cancers and open doors for improved diagnostic and treatment

We made the cover of Genome Research! Check out our latest paper on DDX3X and DDX3Y - the first X-Y gene pair with cross regulatory capabilities (genome.cshlp.org/content/35/1/2…).

🚨Our study uncovering the functions of Y-chromosome genes in male fertility is now out in Science Magazine 🔬🧬 science.org/doi/full/10.11…

StrPhaser constructs tandem repeat alleles from VCF data doi.org/10.1101/2025.0… NAVIP: Unraveling the Influence of Neighboring Small Sequence Variants on Functional Impact Prediction doi.org/10.1101/596718

Using modern biological tools, researchers engineered #cancer cells with and without specific chromosome abnormalities, showing how tumors rely on them for survival and clarifying the biological role of aneuploidy. Learn more on #WorldCancerDay: scim.ag/4hlUseP

Nice paper showing ~1/540 people have a sex chromosome trisomy from 3 large biobanks (UKB, FinnGen, MVP) comprising 1.5 million individuals along with their phenotypic impact. medrxiv.org/content/10.110…

Woke or biology? There are actually more than the basic “male” XY & “female” XX sexes. Why? Because biology also creates people with single X chromosomes, or extra chromosomes like XXX, XXY, XYY, or XXX+, plus many 🧬genes. 👉All I’m asking is— please be kind to others. Thanks🙏

Great job!

❤️Our April issue is out❤️ Read about sex differences in atherosclerosis revealed by single-cell sequencing, how cardiac motion can be generated from electrocardiogram readings, the cardiac side effects of targeting immune checkpoint regulators, and more! nature.com/natcardiovascr…

X chromosome dosage compensation through the lens of human genetics! Females have two X chromosomes, but males have one. To compensate for this, one X is randomly inactivated in female cells. Some genes escape from this inactivation. Because both males and females are

🚨Just published in Clinical Epigenetics! 1 in 3 women ≤30 with triple-negative breast cancer (TNBC) carry a hidden BRCA1 epimutation — missed by genetic tests. 🧬 Detected with MethylDetect™ MS-HRM. 👉 doi.org/10.1186/s13148… #BRCA1 #Epigenetics #TNBC #MethylDetect

We are so happy to be on the cover Sarah Hoelzl Amy Cao 🎉 The cover depicts the Three Fates, who manipulate the threads of life and death. The Fates are shown as three older women, unraveling the threads of the inactive X chromosome during aging. nature.com/nataging/volum…

Happy to introduce AlphaGenome, Google DeepMind's new AI model for genomics. AlphaGenome offers a comprehensive view of the human non-coding genome by predicting the impact of DNA variations. It will deepen our understanding of disease biology and open new avenues of research.

Older patients with lupus display a marked drop in the expression of interferon stimulated genes and shifts in methylation epigenetic patterns, according to a clinical study that may explain why the condition becomes milder with age. scim.ag/4lc1BQU Science Translational Medicine

bbc.com/news/articles/…

Check out a new Review article on clonal hematopoiesis by Jen Trowbridge and collaborators Nature Cancer doi.org/10.1038/s43018…