It is really great honor to present my works regarding infantile nystagmus at ISER #ISER2023 on the Gold Coast in Feb 2023. Let’s meet in there!

Now available in #GATK: NVScoreVariants, a new #deeplearning tool for filtering #genomic variants, developed by NVIDIA Healthcare in collaboration with Broad Institute, which delivers key improvements over CNNScoreVariants gatk.broadinstitute.org/hc/en-us/artic… GATK Dev Team

Tinlarebant (aka LBS 008) is an oral treatment being developed by Belite Bio. It is currently in Phase 3 (DRAGON) recruiting adolescent subjects with Stargardt Disease. #LBS008 #Tinlarebant #Stargardt

Lancet Neurology has published updated guidelines on the diagnosis and classification of optic neuritis. This position paper reclassifies optic neuritis based on etiology, space, and time while addressing gaps in our knowledge. pubmed.ncbi.nlm.nih.gov/36179757/ #nanos #research #NeuroOph

Genetics in neuro-ophthalmology: there is more than optic atrophy and LHON. Learn the importance of understanding genetic report with Dr. Jurkute at #NANOS2023 Follow the link to register today! bit.ly/3E9vRHA #iregisteredfornanos2023 #NeuroOphthalmology #neurogenetics

EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited eye disorders OpenAccess: bit.ly/3WCAKA6 #Ophthalmology #Genomics #Bioinformatics Gavin Arno Michel Michaelides Jamie Ellingford UK Eye Genetics Group, Moorfields Eye Charity

With GRC members #iser2023

Great morning session in Inherited Retinal Disease Robyn Jamieson, Carlo Rivolta, Elfride de Baere, Eric Pierce, Ayellet Segre #iser2023 great afternoon golf ! too in Emerald lake golf course

Excellent talk by 한진우 on state of the art in nystagmus ISER. Very nice session organised by Christina Zeitz on geno-pheno correlations and disease modelling. #ISERWOW2023 #ISER2023

Great talk "Foveal Development in Infantile Nystagmus" by Mervyn Thomas ! great last session "New Developments in Understanding Nystagmus" #iser2023 #ISERWOW2023

A novel genetic eye condition nature.com/articles/s4143…

What a session! So many questions! Thank you @AndrewGoLeeMD1 and Dan Milea for this adventure! Another fruitful NANOS meeting! If tomorrow you feel deprivation of genetic flavour, stop by my poster and have another chat! Thank you Moorfields Eye Charity for Research Travel Grant!

#Machinelearning model for automating variant prioritization is highly accurate compared to manual #variantinterpretation. #Artificialintelligence #precisionmedicine Illumina bit.ly/3ZsKtKM

One size does not fit all. Disease specific tools may be more accurate in identifying disease-specific #pathogenicvariants compared to pan-genome and pan-disease specific tools. #machinelearning #eyedisease bit.ly/3nD8vpx

It was an honor to be selected for presentation at #MEE #researchday 2023 and even get an unexpected reward! youtu.be/ZxjkRULsWBc Many thanks to Milica Margeta, Brikha Shrestha and Hernan Santana for organizing such an interesting and useful event! Mass Eye and Ear Harvard Ophthalmology

Matplotlib is a really handy Python Library for Data Visualization. This contains: - Format Strings - Barchart, Histogram, Scatter, Line & Box Plots - Formatters & Color Maps - Subplots & more Use this as your reference next time working with it: Thread 🧵👇

South Korea: Striking junior doctors are threatened with arrest and suspension bmj.com/content/384/bm…

Clinician-driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases is out. Congrat to all contributors! jamanetwork.com/journals/jaman…

From JAMA: Special Communication by University of Washington McElvaney and ACCME McMahon discusses challenges faced by int’l medical graduates aspiring to practice in the US at a time of worsening physician shortages and dwindling participation in academia. ja.ma/4d2V1aE

Professor Edward H.Sargent a Canadian Scientist, who published many papers in top journals i.e., #science and #Nature. He wrote 10 tips on how to write papers. 𝗣𝗵𝗗𝘃𝗶𝗯𝗲 PhD Voice - Independently Run Survivor Scientist, PhD #PhDposition #phdlife #PhD #postdoc #chemtwitter #Science #AcademicChatter