@HelenVFirth And we can even make new disease associations as PART of a clinical test. Patients from our exome service publishedhere https://t.co/WXoJI2Q8Ir, here https://t.co/YCzjHlcDWy and here https://t.co/nAEusTGZav etc... no reason such practice can…
RT @LaughingGenome: Exciting to be making new gene-disease associations on diagnostic exome data in the #nhs - first of 3 or 4 we've got in…
Exciting to be making new gene-disease associations on diagnostic exome data in the #nhs - first of 3 or 4 we've got in the pipeline this year. Great UK/Belgian collab - atypical Marfan mimic https://t.co/wk5GpYNYlO #genomics #nocottageindustry
RT @AJHGNews: New! Mortier & colleagues identify bi-allelic NPR3 mutations in a disorder typified by enhanced bone growth & cardiovascular…