The role of clinical genomic testing in diagnosis and discovery of pathogenic mutations

摘要: Next-generation sequencing in clinical practice allows for a critical review of the literature to evaluate disease relatedness specific genes and pathogenicity individual mutations, while providing an important discovery tool new disease-causing mutations. Data obtained from large panels, whole exome or genome sequencing, performed constitutional cancer cases, need be managed transparent, yet powerful analytical framework. Assessment reported pathogenic potential variant association gene requires careful consideration population allele frequency, data parents, precise, concise phenotypic description entire family other individuals families that have same variant. The full can only realized if there is sharing between clinicians performing interpretation worldwide structural biologists, chemists cell biologists interested knowledgeable...