During the bioinformatic and clinical processing of NGS data that will result in the final medical assessment, all detected variants must be checked for if and how they are annotated in genomic databases. However, the existence of significant discrepancies in variant reporting and their classification requires additional scrutiny and caution.
Some of the existing discrepancies between databases can only be resolved by manually scanning conflicting journals, assessing, and reviewing supplementary materials in the articles, or directly contacting the authors.
This application note from Qiagen describes how to use Human Gene Mutation Database Professional to increase the diagnostic yield in complex neurological disorders including Alzheimer’s disease, Parkinson’s disease, and multiple sclerosis.
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