Next-Generation DNA Sequencing Technologies

Kürekçi, Gülsüm Kayman; Dinçer, Pervin

doi:10.5152/etd.2014.7803

Cited by 2 publications

(1 citation statement)

References 37 publications

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“…There are other sequencing platforms including Illumina, Solex, SOLID. 22 30 31 32 Third-generation sequencing technology can determine the base composition of single DNA molecules and also enables real-time sequencing. 25 …”

Section: Development Of New Sequencing Technologiesmentioning

confidence: 99%

Recent Advances in Autism Spectrum Disorders: Applications of Whole Exome Sequencing Technology

Şener

Canatan

Özkul

2016

Psychiatry Investig

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Autism spectrum disorders (ASD) is characterized by three core symptoms with impaired reciprocal social interaction and communication, a pattern of repetitive behavior and/or restricted interests in early childhood. The prevalence is higher in male children than in female children. As a complex neurodevelopmental disorder, the phenotype and severity of autism are extremely heterogeneous with differences from one patient to another. Genetics has a key role in the etiology of autism. Environmental factors are also interacting with the genetic profile and cause abnormal changes in neuronal development, brain growth, and functional connectivity. The term of exome represents less than 1% of the human genome, but contains 85% of known disease-causing variants. Whole-exome sequencing (WES) is an application of the next generation sequencing technology to determine the variations of all coding regions, or exons of known genes. For this reason, WES has been extensively used for clinical studies in the recent years. WES has achieved great success in the past years for identifying Mendelian disease genes. This review evaluates the potential of current findings in ASD for application in next generation sequencing technology, particularly WES. WES and whole-genome sequencing (WGS) approaches may lead to the discovery of underlying genetic factors for ASD and may thereby identify novel therapeutic targets for this disorder.

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