Tag: next generation sequencing

Nightmare Naming Conventions

One of the tasks I seem to be spending a lot time thinking about these days is how to name files and structure them in the appropriate directories so that they follow a consistent logic. This is because my current research involves development of analysis pipelines of Next […]

The Power of Incidental Findings

Imagine that you are a geneticist that receives a patient in your clinic with a rare genetic disorder. Your patient is a 3 year old girl with severe learning dificulties. After looking at her sample under the microscope you find nothing of note and so you dismiss the […]