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Azza Althagafi1,2,3, Fernando Zhapa-Camacho1,2, Robert Hoehndorf1,2,4

  • 1Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), 4700 KAUST, Thuwal 23955, Saudi Arabia.

概括

一种新的计算方法,EmbedPVP,通过将基因组数据与临床表型集成,优先考虑罕见疾病诊断的遗传变异. 这种方法提高了诊断能力,超出了目前的局限性,有助于识别新的致病变异.