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Thalassemia is one of the most heterogeneous diseases, with more than a thousand mutation types recorded worldwide. Molecular diagnosis of thalassemia by conventional PCR-based DNA analysis is time- and resource-consuming owing to the phenotype ...
Syahzuwan Hassan +7 more
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Current research status of third-generation sequencing technology in thalassemia detection [PDF]
Thalassemia is a hereditary hemolytic disorder primarily caused by defects in the hemoglobin genes, which impede the synthesis of hemoglobin peptide chains. This disease is mainly classified into two types: α and β.
Fenglin Zhu +3 more
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The Third-Generation Sequencing Challenge: Novel Insights for the Omic Sciences [PDF]
The understanding of the human genome has been greatly improved by the advent of next-generation sequencing technologies (NGS). Despite the undeniable advantages responsible for their widespread diffusion, these methods have some constraints, mainly ...
Carmela Scarano +5 more
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Application of third-generation sequencing to herbal genomics
There is a long history of traditional medicine use. However, little genetic information is available for the plants used in traditional medicine, which limits the exploitation of these natural resources. Third-generation sequencing (TGS) techniques have
Longlong Gao +3 more
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Advances and Trends in Omics Technology Development
The human history has witnessed the rapid development of technologies such as high-throughput sequencing and mass spectrometry that led to the concept of “omics” and methodological advancement in systematically interrogating a cellular system.
Xiaofeng Dai, Li Shen
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Application of third-generation sequencing in cancer research
In the past several years, nanopore sequencing technology from Oxford Nanopore Technologies (ONT) and single-molecule real-time (SMRT) sequencing technology from Pacific BioSciences (PacBio) have become available to researchers and are currently being ...
Chen Zhiao, He Xianghuo
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Identification of rare thalassemia variants using third-generation sequencing
Routine PCR, Sanger sequencing, and specially designed GAP-PCR are often used in the genetic analysis of thalassemia, but all these methods have limitations.
Qin Liu +11 more
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SequelTools: a suite of tools for working with PacBio Sequel raw sequence data
Background PacBio sequencing is an incredibly valuable third-generation DNA sequencing method due to very long read lengths, ability to detect methylated bases, and its real-time sequencing methodology.
David E. Hufnagel +2 more
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DNA N6-methyladenine (6mA) modification has been discovered as the most prevalent DNA modification in prokaryotes and eukaryotes, involving gene expression, DNA replication and repair, and host-pathogen interactions. Single-molecule real-time sequencing (
Siqian Yang +3 more
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Background and Aims: In in vitro fertilization (IVF) cycles, some patients suffering with vaginosis showed poor reproductive outcome even transferring with good quality embryos.
Wei-Fang Chang +11 more
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