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Updated: Jun 15, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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Published on: June 15, 2011

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来自亚利桑那州的两个土著美国人的De Novo基因组组合在非参考序列中识别了新的多态性

Çiğdem Köroğlu1, Peng Chen1, Michael Traurig1

  • 1Diabetes Molecular Genetics Section, Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Phoenix, AZ 85004, USA.

Genome biology and evolution
|August 27, 2024
PubMed
概括

为了使人类遗传研究多样化,需要改进参考基因组. 将来自美国土著人的非参考序列 (NRS) 纳入,揭示了数千个遗漏的遗传变异,增强了在代表性不足的人群中的变异检测.

关键词:
在 HCN2 的情况下.这就是HiFi测序.在 de novo 组装中.基因组对齐 基因组对齐基因组多样性 基因组多样性美国原住民美国人.

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