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Disease gene identification : ウィキペディア英語版
Disease gene identification
Disease gene identification is a process by which scientists identify the mutant genotypes responsible for an inherited genetic disorder. Mutations in these genes can include single nucleotide substitutions, single nucleotide additions/deletions, deletion of the entire gene, and other genetic abnormalities.
== Significance ==

Knowledge of which genes (when non-functional) cause which disorders will simplify diagnosis of patients and provide insights into the functional characteristics of the mutation. The advent of modern-day high-throughput sequencing technologies combined with insights provided from the growing field of genomics is resulting in more rapid disease gene identification, thus allowing scientists to identify more complex mutations.

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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