The wrap up of the exome sequencing chat. Featuring authors Emily Groopman and Krzysztof Kiryluk joining in. Lots of hope - lots of questions. A number of us came as skeptics and walked away converted, with hope in our hearts. Beyond the top line results, important discussions centred around questions of validation, scaling this up with high throughput assays, the significance of novel variants in novel genes, sharing data while safeguarding privacy and more.
Some selected tweets can be seen below