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在印度未诊断疾病计划中对外体序列数据的重新分析:改善诊断产量和结束诊断奥德赛

Neha Garg1, Pragna Lakshmi2, Suzena M Singh3

  • 1Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.

Clinical genetics
|January 14, 2025
PubMed
概括

重新分析基因组数据改善了印度未被诊断的疾病的诊断率. 这种方法确定了新的基因疾病联系和错过的变异,在先进的测试之前证明是至关重要的.

关键词:
在DAAM2中,DAAM2是DAAM的第二个版本.在KIAA0753中.印度人 印度人 印度人 印度人生物信息学是一种生物信息学.神经发育的神经发育.下一代测序的下一代测序.重新分析重新分析没有被诊断出来的疾病.

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