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Next-generation Sequencing03:00

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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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Intellectual disability (ID) is a neurodevelopmental condition characterized by deficits in intellectual and adaptive functioning that manifest during the developmental period. This condition encompasses challenges in reasoning, memory, problem-solving, and learning, accompanied by impairments in everyday life skills, such as communication, self-care, and social interactions. Intellectual disability affects approximately 1% of the population in the United States, impacting an estimated 5...
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DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
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In the same year as the discovery of the Sanger sequencing method, another group of scientists, Allan Maxam and Walter Gilbert, demonstrated their chemical-cleavage method for DNA sequencing. The Maxam-Gilbert method relies on using different chemicals that can cleave the DNA sequence at specific sites, the separation of resulting DNA fragments of variable size using electrophoresis, and deciphering the DNA sequence from the resulting gel bands.
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RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
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在不明原因的智力障碍下下一代测序.

Sapna Sandal1, Ishwar Chander Verma1, Sunita Bijarnia Mahay1

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

Indian journal of pediatrics
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PubMed
概括
此摘要是机器生成的。

下一代测序 (NGS) 为印度患者的智力障碍 (ID) 提供了高的诊断产量. 这种基因测试方法可以识别致病变异,指导临床管理和家庭的生殖选择.

关键词:
自体逆行性智力障碍 自体逆行性智力障碍发育迟缓 发展迟缓智力障碍 智力障碍是一种智力障碍.下一代测序测序是什么

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科学领域:

  • 遗传学 是一个遗传学.
  • 基因组医学是基因组医学.
  • 儿科神经学 儿科神经学

背景情况:

  • 智力障碍 (ID) 影响了人口的很大一部分,通常在常规测试后具有未知的遗传原因.
  • 了解ID的遗传基础对于准确的诊断,管理和遗传咨询至关重要.
  • 关于印度ID分子遗传谱的数据有限.

研究的目的:

  • 为了评估下一代测序 (NGS) 的诊断产量,用于通过标准遗传测试无法解释的智力障碍 (ID).
  • 评估确定的遗传诊断对临床管理和家庭遗传咨询的影响.
  • 调查印第安人队伍中ID的遗传异质性和共同遗传模式.

主要方法:

  • 这是一项双向研究,涉及227名患者 (126名前性,101名后性) 患有中度至严重的ID.
  • 所有参与者都进行了基于下一代测序 (NGS) 的基因测试.
  • 包括费舍尔精确测试在内的统计分析被用来比较患者组之间的诊断产量.

主要成果:

  • NGS的整体诊断产量为53.3% (121/227),在84个已知的ID基因中确定了致病变异.
  • 自体後退性智力障碍 (ARID) 是最常见的遗传原因 (23.3%),其次是自体主导性智力障碍 (ADID) (20.7%) 和X链接智力障碍 (XLID) (9.2%).
  • 与单独的ID (20%) 相比,ID加相关疾病患者的诊断收益率显著更高 (55.6%).
  • 确定的诊断影响了14%的家庭的临床管理和21.4%的家庭的生殖结果.

结论:

  • 在印度人口中,NGS在诊断未知病因的智力障碍 (ID) 方面非常有效.
  • 自体後退性智力障碍 (ARID) 是该队列中智力障碍的普遍原因.
  • 通过NGS建立基因诊断显著影响临床管理和家庭生殖规划,强调了基因测试和表型相关性的重要性.