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Updated: Sep 13, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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由于基因组医疗保健不平等,巴基斯坦人群中的基因组变异解释存在挑战

Zantasha Khalid1, Matthew Adams2, Anees Muhammad3

  • 1Department of Biological Sciences, International Islamic University, Islamabad, Pakistan.

American journal of medical genetics. Part A
|July 27, 2025
PubMed
概括

基因组变异解释在像巴基斯坦这样的代表性不足的人群中具有挑战性,导致罕见遗传性疾病的诊断延迟. 增加基因组数据的多样性对于解决医疗保健不平等至关重要.

关键词:
这是ACOX3的ACOX3.在HSPG2中,它是HSPG2.在INTS1中,它是INTS1.PPFIBP1 PPFIBP1 的意思是什么?巴基斯坦 巴基斯坦 巴基斯坦.医疗保健方面的不平等.代表性不足的人口.

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