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Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research
2017
Genetics
Efforts to identify the genetic underpinnings of rare undiagnosed diseases increasingly involve the use of next-generation sequencing and comparative genomic hybridization methods. These efforts are limited by a lack of knowledge regarding gene function, and an inability to predict the impact of genetic variation on the encoded protein function. Diagnostic challenges posed by undiagnosed diseases have solutions in model organism research, which provides a wealth of detailed biological
doi:10.1534/genetics.117.203067
pmid:28874452
pmcid:PMC5586389
fatcat:bhaf43bq45dcnnjuoklczpm5ui