here's one from Greg Larssen on X/twitter
"Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases"
That's the title of a paper published by a remarkable cooperation of multiple universities worldwide, with, surprisingly, the UK heading the list with 8 universities, showing that the second most populous country in Western Europe is belatedly and finally embracing OGM after initially deriding it unlike it's EU neighbors :
- Austria : Vienna University
- Denmark : Odense University
- Germany : Ulm University, Eberhard Karls University (Tübingen), Göttingen University
- Holland : Groningen University, Utrecht University
- Italy : Meyer Children's Hospital (Florence)
- Japan : Osaka University
- Portugal : Coimbra University
- UK : Birmingham University, Coventry & Warwickshire University, Imperial College London, Manchester University, Oxford University, UCL (University College London), St George's University (London), Wellcome Centre for Human Genetics
- USA : Ann & Robert H. Lurie Children’s Hospital of Chicago, Maryland University @ Baltimore, Northwestern University @ Chicago
The paper states that genome sequencing is increasingly being considered as a first-line genetic test in routine clinical settings and can make a substantial contribution to rapidly identifying a causal aetiology for many patients, shortening their diagnostic odyssey. They then go on to demonstrate that proper analysis of variants is so critical that clinical diagnosis must include a comprehensive analysis of the entire genome to maximise the value of clinical genome sequencing, and this includes using technologies like OGM.