Ophthopedia

@ophthalmology.bsky.social

Ophthopedia Update: Neutral Intrachromosomal Translocation of PAX6 and Aniridia: This diagnostic study aims to determine whether optical genome mapping and long-read whole-genome sequencing can identify a pathogenic structural variant disrupting PAX6 in an individual… #Ophthalmology #Eyecare #JAMA

Alison Ballance

@ali-ballance.bsky.social

The suspected case of highly pathogenic H5N1 avian influenza in Western Australia is very alarming news. Not clear yet exactly what species of migratory bird is involved

Suspected detection of H5 strain of bird flu in WA, which would mark first detection in Australia https://www.rnz.co.nz/news/world/602245/suspected-detection-of-h5-strain-of-bird-flu-in-wa-which-would-mark-first-detection-in-australia

uncited

@uncited.org

Casadei et al. in the Starita Lab at the University of Washington reveal that saturation genome editing can accurately distinguish pathogenic from benign variants in RAD51D and XRCC2, with RAD51D exhibiting a notable sensitivity to splice-altering mutations.