Diving Into Undiagnosed Cases

Thinking outside the box

Rare genetic disorders are exeedingly difficult to diagnose, owing to the fact that over 7,000 of them exist (some estimates even higher around 10,000). With exome sequencing, we can diagnose roughly 40% of cases (on average over multiple studies) where the germline mutation/inherited pathogenic variant is impacting the coding portion... [Read More]
Tags: Genomics, undiagnosed, rare diseases

Poem 1

A bit personal

It’s about to get a little bit personal. Is it wrong to post something like this on a quasi-professional website? Maybe. Am I going to do it anyways? Yup. [Read More]
Tags: Personal, Love

How Best To Filter WGS Variant Calls

Variant Calling

It’s hard to know what the best approach is for filtering variant calls from WGS data, but I think that the approach should reflect the underlying goal. For association/enrichment, genotyping, and database building it makes sense to have a clean set of variants to work with, and strict cutoffs can... [Read More]
Tags: Variant Calling, exciting-stuff

Final Version Paper Writing with Wyeth

The final push

When you finally manage to get a manuscript draft to the point of completion, and you have secured your PI’s valuable time for the final push, you start to feel the butterflies. Butterflies about whether or not he’ll like it, whether the editor will accept it, if the reviewers will... [Read More]
Tags: First, exciting-stuff