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Updated: May 15, 2025

Rare Event Detection Using Error-corrected DNA and RNA Sequencing
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Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

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计算方法的基准,以检测数据序列的数据序列中的digenism.

Marie-Sophie C Ogloblinsky1, Donald F Conrad2, Anaïs Baudot3

  • 1Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France. marie-sophie.ogloblinsky@inserm.fr.

European journal of human genetics : EJHG
|April 9, 2025
PubMed
概括

涉及两个基因的基因遗传,可以导致罕见疾病. 这项研究对测序数据中的检测方法进行了基准测试,发现DiGePred,ARBOCK和DIEP在识别基因疾病模式方面具有不同的优势.

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Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
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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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