Whole Exome Analysis of NIAAA Clinical Center pATIENTS

The NIAAA Clinical Center patient cohort has been analyzed patients for sequence variant differences, and changes in response to treatment over the course of many years as part of an effort to identify underlying causes of alcohol related disorders. Analysis has previously been performed on over 2000 patients using the AmpliSeq Exome enrichment system and sequenced on the ION sequencing platform because it provides the capability of cost-effective high throughput whole-exome genome-wide analysis.

The use of a single enrichment and sequencing platform with consistent information content is essential for analysis of samples screened at different times and it is therefore imperative for analytical integrity that all samples in the study are processed on the same sequencing platform, as each platform has a unique pattern of error