Information Sources

Sanjeev refers to a suite of conservation tools (PolyPhen and Sift) which weren’t specifically mentioned in week 3 as part of the clinical bioinformatician’s toolkit, let’s look at these in more detail now.

Predicting Missense Mutations

You may remember from the article Naming and Classifying Variants in week 2,

• Missense – Predicting Functional Effect of Human Missense Mutations Using PolyPhen-2

• Predicting the Effects of Amino Acid Substitutions on Protein Function

Additional Information

He also discusses the additional data sources both externally and internally with in-house data to verify results and ultimately ensure data precision and accuracy. We covered metadata and investigating findings against other relevant data in week two Adding Metadata here and the tools here Checking the Databases.

ExAc database filter variants in this case to filter the variants against commonly seen variants in the general population and contains exome sequencing data from over 60,000 individuals in a single database.