John Harting
@Johnharting
Father of two, Bioinformatician, eco-adventurer
ID:252113106
14-02-2011 14:33:00
44 تغريدات
64 متابعون
48 التالية
Today we report in Science Magazine a one-time base editing treatment for Spinal Muscular Atrophy (SMA), the leading genetic cause of infant mortality worldwide, affecting ~1 in 10,000 births. science.org/doi/10.1126/sc…
PDF: drive.google.com/file/d/1H1k8AA…
1/17
Super excited to see our manuscript about complete genotyping of SMN1 and SMN2 using PacBio HiFi reads with our new software tool, paraphase. This work was led by xiaochen in collaboration with scientists at Genomics England #radboundumc and Children's Mercy Research Institute authors.elsevier.com/sd/article/S00…
MUST WATCH: this new video from Wellcome Sanger Institute features some of the amazing science and scientists working on #DarwinTreeOfLife 🧬
It's a snapshot of the tireless work being undertaken by our partners the length and breadth of these islands.
youtube.com/watch?v=szFdV9…