We're all so proud of the dream team Fany Martinez Real & Darío G. Lupiáñez for leading this incredible phylogenomic work on the origin of moles intersexuality. As we like to say in the lab, that is some Real Science! #evodevo #3DGenome science.sciencemag.org/content/370/65…

I am very excited to share our first evolution paper about moles and their intersexuality, check it out! And if you want to learn more about it, scroll down ;-) science.sciencemag.org/content/370/65…

Such an interesting read!!! I wonder if recurrent genetic events due to the high mutagenesis rates in placental tissue could cause gestational choriocarcinoma and other GTD... I found 2 papers linking germline P53 mutations to GTD, but not much on somatic mutations.

Research grant of over €2 Million ($2.5 Million) offers new hope for children with rare condition Schinzel-Giedion Syndrome! Read the full Schinzel-Giedion Syndrome Foundation press release below.

Systematically. Rocco here. Sometimes Rocia or Rocky'O. Rocho for the Italians. Someone once thought my name was actually Roc°~o.

Pathogenic mutations in non-coding regions of the genome in Mendelian disease: deletions in a lncRNA locus involved in limb patterning cause complex limb malformations in humans.

Drug development hard, but smoother when drugs designed to mimic natural resistance mutations Today (L): Regeneron evinacumab (monoclonal antibody neutralizing ANGPTL3) approved U.S. FDA for lowering LDL in homozygous FH 2010 (R): humans who lack ANGPTL3 have ultra low LDL

I'll be taking part in today‘s livestream from the FUTURE FORUM by BMW Welt on “How AI and big data are shaping the healthcare of tomorrow”. Tune in and let‘s explore the future together. 1E9 BMW Welt #1E9 #FutureForum #BMWWelt Join here: bmw-welt.com/en/experience/…

28 Days of RARE - our Charity Partner Schinzel-Giedion Syndrome Foundation represent and support children with SGS and their families. To see the video in full visit our other social media channels: Facebook @RareRevolutionMagazine #rarediseaseday #rarediseaseday2021 #SGS #schinzelgiedionsyndrome

Today is #RareDiseaseDay! 🌍 300 million people live with a rare disease across the world. On average, it takes 5-7 years before a diagnosis is given. We are proud to support the diagnoses of #RareDisease with our variant interpretation platform 🧬

.Nostos Genomics is growing again! We're looking for a Head of Genomics to help us provide answers for more than 300 million people around the world who live with a genetic disease. If this sounds like you, click here: nostosgenomics.recruitee.com/o/head-of-geno…

Lea Starita on the progress and promise of Multiplex Assays of Variant Effects for clinical variant interpretation #varianteffect21 Lea Starita

We are excited to announce our partnership with Genomenon today! This will give our users access to virtually all relevant literature accelerating genetic disease diagnostics. Learn more at nostos-genomics.com #raredisease #genomics

Diagnostics of repeat expansions has relied on targeted PCR tests. We now show that #WGS can detect pathogenic expansions at a clinical diagnostic standard. Out now The Lancet Neurology! Genomics England UCL Queen Square Institute of Neurology NHS Genomic Medicine Service Illumina Queen Mary University of London thelancet.com/journals/laneu…

Just one more day until #eshg2022! Come say hello at my poster on Sunday at 2pm (P18.045), drop by the Nostos Genomics booth (X4-780) throughout the conference or reach out so we can arrange a coffee. Looking forward! :)

We're attending the 13th #NACG workshop in Stockholm next week! We'd love to meet you if you're there -- get in touch via [email protected]! 🧬 #genomics #ngs #RareDisease

Are you at #ESHG2023 in Glasgow? Come visit us at booth #750 to learn more about how our software can improve your whole-genome interpretation, or visit the poster session of Rocío Acuña-Hidalgo starting at 1PM today (P18) 🧬

🧬 Diagnose more patients with AION’s advanced CNV feature! 🚀Accelerate CNV interpretation with automated ranking, ACMG criteria and seamless clinical evidence integration. 👉 nostos-genomics.com/news/diving-de… #Genomics #Genetics #CNV youtu.be/VVj4M5XuqvU