A Statistical Method for Observing Personal Diploid Methylomes and Transcriptomes with Single-Molecule Real-Time Sequencing

Suzuki, Yuta; Wang, Yunhao; Au, Kin Fai; Morishita, Shinichi

doi:10.3390/genes9090460

Cited by 2 publications

(2 citation statements)

References 40 publications

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“…Merker et al (74) used TGS to detect structural variation of the PRKAR1A gene, and thus diagnosed a case of Carney syndrome. Despite many advantages, TGS has a high error rate, SMRT can reach 15% (75). Although it is a random error that can be overcome by sequencing multiple times, it also faces problems in information storage and result interpretation and ethical issues related to genetic information.…”

Section: Third-generation Sequencing Technology (Tgs)mentioning

confidence: 99%

Diagnosis, treatment, and research status of rare diseases related to birth defects

Zhao,

Du,

Yang

et al. 2023

IRDR

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rare diseases, birth defects, diagnosis, treatment, prevention and control Rare diseases are diseases that occur at low prevalence, and most of them are chronic and serious diseases that are often life-threatening. Currently, there is no unified definition for rare diseases. The diagnosis, treatment, and research of rare diseases have become the focus of medicine and biopharmacology, as well as the breakthrough point of clinical and basic research. Birth defects are the hard-hit area of rare diseases and the frontiers of its research. Since most of these defects have a genetic basis, early screening and diagnosis have important scientific value and social significance for the prevention and control of such diseases. At present, there is no effective treatment for most rare diseases, but progress in prenatal diagnosis and screening can prevent the occurrence of diseases and help prevent and treat rare diseases. This article discusses the progress in genetic-related birth defects and rare diseases.

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Section: Third-generation Sequencing Technology (Tgs)mentioning

confidence: 99%

Diagnosis, treatment, and research status of rare diseases related to birth defects

Zhao,

Du,

Yang

et al. 2023

IRDR

View full text Add to dashboard Cite

show abstract

“…In addition, when SMRT sequencing is performed on native non-amplified DNA molecules, it is possible to access several layers of additional information hidden in the kinetic signals emitted by the polymerases during the sequencing reaction [1]. This kinetic information has been used to detect epigenetic modifications at base pair resolution and even phasing of methylation signatures in diploid organisms, as presented in this special issue [5]. Several important discoveries have already been made from this kinetic information, such as the widespread presence of 6mA modifications in the human genome [6], a modification that was previously thought to only be present in bacterial genomes.…”

mentioning

confidence: 99%