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High‐throughput next‐generation sequencing such as whole‐exome and whole‐genome sequencing are being rapidly integrated into clinical practice. The use of these techniques leads to the identification of secondary variants for which decisions about the reporting or not to the patient need to be made. The American College of Medical Genetics and Genomics recently published recommendations for the reporting...
The success of genome‐wide association studies (GWAS) in deciphering the genetic architecture of complex diseases has fueled the expectations whether the individual risk can also be quantified based on the genetic architecture. So far, disease risk prediction based on top‐validated single‐nucleotide polymorphisms (SNPs) showed little predictive value. Here, we applied a support vector machine (SVM)...
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