- Advantages of the single nucleotide polymorphism-based noninvasive prenatal test
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Kim K
- KMID: 2149847
- J Genet Med.
- 2015 Dec;12(2):66-71.
- doi: 10.5734/JGM.2015.12.2.66
Down syndrome screening with cell-free DNA (cfDNA) in the maternal plasma has recently received much attention in the prenatal diagnostic field. Indeed, a large amount of evidence has already accumulated... -
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- Diagnostic approach for genetic causes of intellectual disability
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Yim SY
- KMID: 2055583
- J Genet Med.
- 2015 Jun;12(1):6-11.
- doi: 10.5734/JGM.2015.12.1.6
Intellectual disability (ID) is the most common disability among people under the age of 20 years. In the absence of obvious non-genetic causes of ID, the majority of cases of... -
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- Introduction to bioinformatics: sequencing technology
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Ahn S
- KMID: 2397168
- Asia Pac Allergy.
- 2011 Jul;1(2):93-97.
- doi: 10.5415/apallergy.2011.1.2.93
Bioinformatics, the study of integrating high throughput biological data and statistical model through intensive computation, has been attracting great interest in recent times and Sequencing is at the very center... -
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- New Lung Cancer Panel for High-Throughput Targeted Resequencing
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Kim EH, Lee S, Park J, Lee K, Bhak J, Kim BC
- KMID: 2026459
- Genomics Inform.
- 2014 Jun;12(2):50-57.
- doi: 10.5808/GI.2014.12.2.50
We present a new next-generation sequencing-based method to identify somatic mutations of lung cancer. It is a comprehensive mutation profiling protocol to detect somatic mutations in 30 genes found frequently... -
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- Analysis of Whole Transcriptome Sequencing Data: Workflow and Software
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Yang IS, Kim S
- KMID: 2166526
- Genomics Inform.
- 2015 Dec;13(4):119-125.
- doi: 10.5808/GI.2015.13.4.119
RNA is a polymeric molecule implicated in various biological processes, such as the coding, decoding, regulation, and expression of genes. Numerous studies have examined RNA features using whole transcriptome sequencing... -
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- Trends in Next-Generation Sequencing and a New Era for Whole Genome Sequencing
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Park ST, Kim J
- KMID: 2362500
- Int Neurourol J.
- 2016 Nov;20(Suppl 2):S76-S83.
- doi: 10.5213/inj.1632742.371
This article is a mini-review that provides a general overview for next-generation sequencing (NGS) and introduces one of the most popular NGS applications, whole genome sequencing (WGS), developed from the... -
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- A Primer for Disease Gene Prioritization Using Next-Generation Sequencing Data
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Wang S, Xing J
- KMID: 2166502
- Genomics Inform.
- 2013 Dec;11(4):191-199.
- doi: 10.5808/GI.2013.11.4.191
High-throughput next-generation sequencing (NGS) technology produces a tremendous amount of raw sequence data. The challenges for researchers are to process the raw data, to map the sequences to genome, to... -
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- Recent Advancement of the Molecular Diagnosis in Pediatric Brain Tumor
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Bae JM, Won JK, Park SH
- KMID: 2417362
- J Korean Neurosurg Soc.
- 2018 May;61(3):376-385.
- doi: 10.3340/jkns.2018.0057
Recent discoveries of brain tumor-related genes and fast advances in genomic testing technologies have led to the era of molecular diagnosis of brain tumor. Molecular profiling of brain tumor became... -
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- A diagnosis of hypochondroplasia by next generation sequencing
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Ahn SM, Kim YH, Baek JW, Bae EJ, Lee HJ
- KMID: 2327703
- J Genet Med.
- 2016 Jun;13(1):46-50.
- doi: 10.5734/JGM.2016.13.1.46
Achondroplasia and hypochondroplasia are the two most common forms of short-limb dwarfism. They are autosomal dominant diseases that are characterized by a rhizomelic shortening of the limbs, large head with... -
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- Early-onset epileptic encephalopathies and the diagnostic approach to underlying causes
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Hwang SK, Kwon S
- KMID: 2129732
- Korean J Pediatr.
- 2015 Nov;58(11):407-414.
- doi: 10.3345/kjp.2015.58.11.407
Early-onset epileptic encephalopathies are one of the most severe early onset epilepsies that can lead to progressive psychomotor impairment. These syndromes result from identifiable primary causes, such as structural, neurodegenerative,... -
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- Whole Exome Sequencing of a Patient with Duchenne Muscular Dystrophy
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Choi BS, Hwang SK
- KMID: 2329273
- J Korean Child Neurol Soc.
- 2014 Mar;22(1):25-28.
Duchenne muscular dystrophy (DMD) is the most common and lethal dystrophy in childhood, caused by mutations in the dystrophin (DMD) gene. Multiplex ligation dependent probe amplification (MLPA) or array comparative... -
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- The Cancer Precision Medicine Diagnosis and Treatment (K-MASTER) Enterprise
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Choi YJ, Kim YH
- KMID: 2449421
- Korean J Med.
- 2019 Jun;94(3):246-251.
- doi: 10.3904/kjm.2019.94.3.246
“Precision†trials, using reasonably integrated biomarker targets and molecularly selective anticancer agents, have become a major concern for both patients and their physicians. As next-generation sequencing, which is a parallel... -
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- Analytical Tools and Databases for Metagenomics in the Next-Generation Sequencing Era
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Kim M, Lee KH, Yoon SW, Kim BS, Chun J, Yi H
- KMID: 2009102
- Genomics Inform.
- 2013 Sep;11(3):102-113.
- doi: 10.5808/GI.2013.11.3.102
Metagenomics has become one of the indispensable tools in microbial ecology for the last few decades, and a new revolution in metagenomic studies is now about to begin, with the... -
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- Search for Novel Mutational Targets in Human Endocrine Diseases
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Park SY, Seo MH, Lee S
- KMID: 2441675
- Endocrinol Metab.
- 2019 Mar;34(1):23-28.
- doi: 10.3803/EnM.2019.34.1.23
The identification of disease-causing genetic variations is an important goal in the field of genetics. Advancements in genetic technology have changed scientific knowledge and made it possible to determine the... -
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- SNP-Based Fetal DNA Detection in Maternal Serum Using the HID-Ion AmpliSeqâ„¢ Identity Panel
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Cho S, Lee JH, Kim CJ, Kim MY, Kim KW, Hwang D, Lee SD
- KMID: 2379671
- Korean J Leg Med.
- 2017 May;41(2):41-45.
- doi: 10.7580/kjlm.2017.41.2.41
Fetal DNA (fDNA) detection in maternal serum is a challenge due to low copy number and the smaller size of fDNA fragments compared to DNA fragments derived from the mother.... -
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- Next generation sequencing and urologic cancer
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Kim SK, Kim WJ
- KMID: 2133271
- Korean J Urol.
- 2015 Feb;56(2):87-89.
- doi: 10.4111/kju.2015.56.2.87
No abstract available. -
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- Recent Improvements in Genomic and Transcriptomic Understanding of Anaplastic and Poorly Differentiated Thyroid Cancers
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Yoo SK, Song YS, Park YJ, Seo JS
- KMID: 2471719
- Endocrinol Metab.
- 2020 Mar;35(1):44-54.
- doi: 10.3803/EnM.2020.35.1.44
Anaplastic thyroid cancer (ATC) is a lethal human cancer with a 5-year survival rate of less than 10%. Recently, its genomic and transcriptomic characteristics have been extensively elucidated over 5... -
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- A family with X-linked Cornelia de Lange syndrome due to a novel SMC1A missense mutation identified by multi-gene panel sequencing
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Hong S, Lee CG
- KMID: 2435969
- J Genet Med.
- 2018 Jun;15(1):24-27.
- doi: 10.5734/JGM.2018.15.1.24
Cornelia de Lange syndrome (CdLS) is a rare, clinically and genetically heterogeneous, multi-system developmental disorder caused by mutations in genes that encode components of the cohesin complex. X-linked CdLS caused... -
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- Clinical Implications of Genetic Testing for Hereditary Breast and Ovarian Cancer Syndrome in the Era of Genomic Medicine: Clinician's Perspectives
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Park HS, Park JS, Nam EJ, Lee ST, Han JW, Kim TI
- KMID: 2360680
- J Breast Dis.
- 2016 Jun;4(1):1-9.
- doi: 10.14449/jbd.2016.4.1.1
Hereditary breast and ovarian cancer syndrome accounts for approximately 5% to 10% of breast or ovarian cancers, with which the high-penetrant BRCA1/2 genes have been associated. With the recent development... -
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- Effects of Somatic Mutations Are Associated with SNP in the Progression of Individual Acute Myeloid Leukemia Patient: The Two-Hit Theory Explains Inherited Predisposition to Pathogenesis
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Park S, Koh Y, Yoon SS
- KMID: 1806268
- Genomics Inform.
- 2013 Mar;11(1):34-37.
- doi: 10.5808/GI.2013.11.1.34
This study evaluated the effects of somatic mutations and single nucleotide polymorphisms (SNPs) on disease progression and tried to verify the two-hit theory in cancer pathogenesis. To address this issue,... -
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