Capillary gel electrophoresis for rapid, high resolution DNA sequencing

Swerdlow, Harold; Gesteland, Raymond F.

doi:10.1093/nar/18.6.1415

Cited by 317 publications

(135 citation statements)

References 14 publications

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“…For many years, slab gel systems have been used as the workhorse for gene mapping, DNA sequencing, and disease diagnosis. Recently, advances such as thin slab gels (1), capillary electrophoresis (CE) (2)(3)(4)(5), and capillary array electrophoresis (CAE) (6)(7)(8)(9)(10)(11)(12) have significantly increased the performance of gel electrophoresis. However, to meet the growing demand for increased speed and sample throughput, more revolutionary approaches are needed.…”

mentioning

confidence: 99%

High-throughput genetic analysis using microfabricated 96-sample capillary array electrophoresis microplates

Simpson

Roach

Woolley

et al. 1998

Proc. Natl. Acad. Sci. U.S.A.

266

206

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Capillary array electrophoresis (CAE) microplates that can analyze 96 samples in less than 8 min have been produced by bonding 10-cm-diameter micromachined glass wafers to form a glass sandwich structure. The microplate has 96 sample wells and 48 separation channels with an injection unit that permits the serial analysis of two different samples on each capillary. An elastomer sheet with an 8 by 12 array of holes is placed on top of the glass sandwich structure to define the sample wells. Samples are addressed with an electrode array that makes up the third layer of the assembly. Detection of all lanes with high temporal resolution was achieved by using a laser-excited confocal f luorescence scanner. To demonstrate the functionality of these microplates, electrophoretic separation and f luorescence detection of a restriction fragment marker for the diagnosis of hereditary hemochromatosis were performed. CAE microplates will facilitate all types of high-throughput genetic analysis because their high assay speed provides a throughput that is 50 to 100 times greater than that of conventional slab gels.

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mentioning

confidence: 99%

High-throughput genetic analysis using microfabricated 96-sample capillary array electrophoresis microplates

Simpson

Roach

Woolley

et al. 1998

Proc. Natl. Acad. Sci. U.S.A.

266

206

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“…Numerous modiications have been made in this technique to make the method more eicient, robust and sensitive. Among them are the substitution of nucleotide radiolabeled to luorescence that allowed the sequencing reaction to occur in one tube [15], the development of the polymerase chain reaction [16], the separation of DNA fragments by capillary electrophoresis [17] and later the development of equipment that allowed the sequencing of Figure 1. Timeline of DNA sequencing evolution from Sanger to NGS and the cost per raw megabase of DNA sequenced [17].…”

Section: From Sanger To Ngs Sequencingmentioning

confidence: 99%

Application of Next-Generation Sequencing in the Era of Precision Medicine

Pereira¹,

Malta²,

Freire³

et al. 2017

Applications of RNA-Seq and Omics Strategies - From Microorganisms to Human Health

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Next-generation sequencing (NGS) technologies represented the next step in the evolution of DNA sequencing, through the generation of thousands to millions of DNA sequences in a short time. The relatively fast emergence and success of NGS in research revolutionized the ield of genomics and medical diagnosis. The traditional medicine model of diagnosis has changed to one precision medicine model, leading to a more accurate diagnosis of human diseases and allowing the selection of molecular target drugs for individual treatment. This chapter atempts to review the main features of NGS technique (concepts, data analysis, applications, advances and challenges), starting with a brief history of DNA sequencing followed by a comprehensive description of most used NGS platforms. Further topics will highlight the application of NGS towards routine practice, including variant detection, whole-exome sequencing (WES), whole-genome sequencing (WGS), custom panels (multi-gene), RNA-seq and epigenetic. The potential use of NGS in precision medicine is vast and a beter knowledge of this technique is necessary for an eicacious implementation in the clinical workplace. A centralized chapter describing the main NGS aspects in the clinic could help beginners, scientists, researchers and health care professionals, as they will be responsible for translating genomic data into genomic medicine.

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“…A relative disadvantage is the cost of a sequencing instrument and sequencing signal deterioration after 800-1000 bases. 79 …”

Section: Dna Sequencingmentioning

confidence: 99%

Prenatal Diagnosis of Hemoglobinopathies: From Fetoscopy to Coelocentesis

Damiani

Vinciguerra

Jakil

et al. 2014

Thalassemia Reports

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Prenatal diagnosis of hemoglobinopathies involves the study of fetal material from blood, amniocytes, trophoblast coelomatic cells and fetal DNA in maternal circulation. Its first application dates back to the 70s and it involves globin chain synthesis analysis on fetal blood. In the 1980s molecular analysis was introduced as well as amniocentesis and chorionic villi sampling under high-resolution ultrasound imaging. The application of direct sequencing and polymerase chain reactionbased methodologies improved the DNA analysis procedures and reduced the sampling age for invasive prenatal diagnosis from 18 to 16-11 weeks allowing fetal genotyping within the first trimester of pregnancy. In the last years, fetal material obtained at 7-8 weeks of gestation by coelocentesis and isolation of fetal cells has provided new platforms on which to develop diagnostic capabilities while non-invasive technologies using fetal DNA in maternal circulation are starting to develop.

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Capillary gel electrophoresis for rapid, high resolution DNA sequencing

Cited by 317 publications

References 14 publications

High-throughput genetic analysis using microfabricated 96-sample capillary array electrophoresis microplates

High-throughput genetic analysis using microfabricated 96-sample capillary array electrophoresis microplates

Application of Next-Generation Sequencing in the Era of Precision Medicine

Prenatal Diagnosis of Hemoglobinopathies: From Fetoscopy to Coelocentesis

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