Working with 23andMe exome data: my CF allele and the need for verification

This informative blog post from Dr. Jung Choi at Georgia Tech discusses how to use free, publicly available bioinformatics tools to interpret new exome sequence data from 23andMe. The post includes a response from 23andMe in the comments.

Some of the bioinformatics tools that Dr. Choi uses are:

• samtools
• Integrative Genomics Viewer from the Broad Institute
• dbSNP from NCBI
• UCSC Genome Browser

The post highlights the challenges of mapping gene-protein interactions when reporting results.