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Updated: May 24, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

检测困难的:一个隐藏在眼前的内在NPC1变体

Caroline Gully Brown^1,2, Matthew Bower^1,3, Matthew Schomaker^1,3

¹M Health Fairview Masonic Children's Hospital, Minneapolis, Minnesota, USA.

American journal of medical genetics. Part A

|March 3, 2025

概括

手动审查下一代测序 (NGS) 数据对于识别罕见的内基变异至关重要. 这一案例突显了尼曼-皮克C型疾病中错过的接部位变异,强调了需要进行彻底的数据分析的必要性.

科学领域:

遗传学遗传学是一个
分子生物学分子生物学
医学诊断医学诊断医学诊断

背景情况:

尼曼-皮克C型疾病 (NPC) 是一种自体相衰退性疾病.
准确的基因诊断需要识别双基致病变体.
下一代测序 (NGS) 是基因变异检测的主要工具.

关键词:

在NPC1中,NPC1是NPC1.国家电力公司 (NPC) 是国家电力公司 (NPC).NPC1: c.1947+5G>> 在1947年之前 NPC1: p.Pro237Ser 服务器服务器尼曼 - 皮克病C型内部结合部位变异体内结合部位变异体

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Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

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Published on: August 20, 2018

相关概念视频

Comparing Copy Number Variations and SNPs

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...