Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection medrxiv.org/cgi/content/sh… #medRxiv

A study in Nature Medicine finds generally larger brain-age gaps in Latin American compared with non-Latin American populations, which were influenced by disparities in socioeconomic and health-related factors. go.nature.com/3MoyLg3

🆕 Interested in classifying genomic variants? Check the recently developed PS4-likelihood ratio calculator (PS4-LRCalc)! ▶️ Applicable across both highly penetrant variants such as in ultra-rare Mendelian disease, as well as less penetrant effects from larger case series ▶️ A

Pronto iniciarán los concursos, infórmate y prepárate oportunamente ⁦Universidad de Chile⁩ ⁦Hospital Clínico Universidad de Chile⁩

Penetrance estimation in CNVs associated with neurodevelopmental disorders bit.ly/47Tt5Ve #intellectualdisability #developmentaldelay

Buscamos violín Cervini perdido en el paradero de Irarrázaval con Chile-España. El estuche tenía una vinta roja. Mi hijo lo olvidó ahí y está muy triste. Él es un amante de la música clásica. Se agradece cualquier info 🙏🏽. Muchas gracias!

📢🧠🧬building on important findings in 2024 showing non-coding genes can cause neuronal genetic disorders: pubmed.ncbi.nlm.nih.gov/38991538/ 👩‍🎓👨‍🎓fully funded PhD available to expand understanding of small RNA molecules in neuronal development & function Evolution, Infection and Genomics (EIG) UoM: shorturl.at/Xa1N0

👥IRDiRC is searching for new DSC members that represent a Low- or Middle-Income rare disease population or region, ideally from South-East Asia, Africa, Australia, China. 📝Send your resume, bio-sketch & LoM at [email protected].

AlphaFold can predict protein, DNA, or RNA complexes.. BUT is it easy to determine the reliable interactions?🤔 ➡️ AlphaBridge will identify the most confident interactions, making your analysis easier! 🌐Try it here: alpha-bridge.eu 👀Read more: biorxiv.org/content/10.110…

#Newpaper is out! with Ximena Orchard Sebastián Rivera A. Guillermo Bustamante-Pavez in The International Journal of Press/Politics #IJPP This is a Núcleo Milenio MEPOP paper about #NewsConsumption & #Misinformation during Chile's 2022 Constitutional Referendum Comunicaciones Fundamentos de los Datos doi.org/10.1177/194016… 🧵👇

Exactly how many protein-coding genes are there in the human genome? The truth is no one knows. The numbers change based on what database you use as reference. "More than 2,500 coding genes in the human reference gene set still have unsettled status" Maquedano et al. bioRxiv

El último día de febrero se conmemora el día mundial de las #EnfermedadesRaras #PocoFrecuentes Rare Disease Day . En preparación para este día, compartiremos durante esta semana los resultados principales de nuestro trabajo de investigación colaborativa en el ICIM et al.

We performed ES in >160 patients with #Undiagnosed #RareDiseases and found a diagnosis for 38% of them. You can read details here bit.ly/41AlWb0 Thanks Cecilia Poli Boris Rebolledo-Jaramillo Víctor Faúndes Jennifer Posey LuzMMartin GonzaloEncina DanielaBohme and many collaborators

¿Sabías qué? las enfermedades poco frecuentes (EPOF) tienen por definición una baja prevalencia, pero representan una importante carga para los sistemas de salud en el mundo debido a que afectan a un gran número de personas y se asocian a elevados costos.

Hoy dimos un paso histórico en el Congreso: aprobamos por unanimidad el proyecto de ley sobre enfermedades poco frecuentes. Casi 1 millón de personas en Chile viven con estas condiciones, muchas sin diagnóstico claro ni apoyo suficiente. 1/3

It all started with a patient — as it often does. Facing an uncertain variant in IFT140, we explored protein free energy changes (ΔΔG) to reclassify VUS and support diagnosis of a rare disease. We’re happy to share what we learned with Víctor Faúndes doi.org/10.3389/fmolb.…

Ciencia en vilo Hoy en Emol.com

We are excited to share our new paper out today in Nature Genetics which explores de novo mutations in DNA secondary structure and identifies two novel #diseasegenes nature.com/articles/s4158…

The paper ‘Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes’ is available Open Access from this link 👇🏼 nature.com/articles/s4158…

Te quedan solo, los días de hoy y de mañana 31 de agosto , para enviar el resumen de tu trabajo al congreso de Sociedad de Genética de Chile