29 Result(s)
within
Woong-yang Park
Science, Humanities and Social Sciences, multidisciplinary
-
Article
Open AccessA highly annotated whole-genome sequence of a Korean individual
The genome of an anonymous Korean male has been sequenced using a broad spread of genomic techniques. This combinatorial approach allows for detailed characterization of sequence and structural variation. The ...
-
Article
Open AccessHigh-power femtosecond-terahertz pulse induces a wound response in mouse skin
Terahertz (THz) technology has emerged for biomedical applications such as scanning, molecular spectroscopy and medical imaging. Although a thorough assessment to predict potential concerns has to precede befo...
-
Article
Open AccessThe minimal amount of starting DNA for Agilent’s hybrid capture-based targeted massively parallel sequencing
Targeted capture massively parallel sequencing is increasingly being used in clinical settings, and as costs continue to decline, use of this technology may become routine in health care. However, a limited am...
-
Article
Open AccessVertical Magnetic Separation of Circulating Tumor Cells for Somatic Genomic-Alteration Analysis in Lung Cancer Patients
Efficient isolation and genetic analysis of circulating tumor cells (CTCs) from cancer patients’ blood is a critical step for clinical applications using CTCs. Here, we report a novel CTC-isolation method and ...
-
Article
Open AccessSingle-cell RNA-seq enables comprehensive tumour and immune cell profiling in primary breast cancer
Single-cell transcriptome profiling of tumour tissue isolates allows the characterization of heterogeneous tumour cells along with neighbouring stromal and immune cells. Here we adopt this powerful approach to...
-
Article
Open AccessAllelic imbalance of somatic mutations in cancer genomes and transcriptomes
Somatic mutations in cancer genomes often show allelic imbalance (AI) of mutation abundance between the genome and transcriptome, but there is not yet a systematic understanding of AI. In this study, we perfor...
-
Article
Open AccessA molecular portrait of microsatellite instability across multiple cancers
Microsatellite instability (MSI) refers to the hypermutability of short repetitive sequences in the genome caused by impaired DNA mismatch repair. Although MSI has been studied for decades, large amounts of se...
-
Article
Open AccessKorean Variant Archive (KOVA): a reference database of genetic variations in the Korean population
Despite efforts to interrogate human genome variation through large-scale databases, systematic preference toward populations of Caucasian descendants has resulted in unintended reduction of power in studying ...
-
Article
Open AccessPrevalence and detection of low-allele-fraction variants in clinical cancer samples
Accurate detection of genomic alterations using high-throughput sequencing is an essential component of precision cancer medicine. We characterize the variant allele fractions (VAFs) of somatic single nucleoti...
-
Article
Open AccessATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy
The etiologies and prevalence of sporadic, postlingual-onset, progressive auditory neuropathy spectrum disorder (ANSD) have rarely been documented. Thus, we aimed to evaluate the prevalence and molecular etiol...
-
Article
Open AccessMulti-omics profiling of younger Asian breast cancers reveals distinctive molecular signatures
Breast cancer (BC) in the Asia Pacific regions is enriched in younger patients and rapidly rising in incidence yet its molecular bases remain poorly characterized. Here we analyze the whole exomes and transcri...
-
Article
Open AccessGenomic alterations of ground-glass nodular lung adenocarcinoma
In-depth molecular pathogenesis of ground-glass nodular lung adenocarcinoma has not been well understood. The objectives of this study were to identify genomic alterations in ground-glass nodular lung adenocar...
-
Article
Open AccessUtility of targeted deep sequencing for detecting circulating tumor DNA in pancreatic cancer patients
Targeted deep sequencing across broad genomic regions has been used to detect circulating tumor DNA (ctDNA) in pancreatic ductal adenocarcinoma (PDAC) patients. However, since most PDACs harbor a mutation in K...
-
Article
Open AccessIntratumor heterogeneity inferred from targeted deep sequencing as a prognostic indicator
Tumor genetic heterogeneity may underlie poor clinical outcomes because diverse subclones could be comprised of metastatic and drug resistant cells. Targeted deep sequencing has been used widely as a diagnosti...
-
Article
Open AccessGenetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing
Autosomal dominant polycystic kidney disease (ADPKD) is one of the main causes of end-stage renal disease (ESRD). Genetic information is of the utmost importance in understanding pathogenesis of ADPKD. Therefo...
-
Article
Open AccessAuthor Correction: Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
-
Article
Open AccessSingle-cell RNA sequencing demonstrates the molecular and cellular reprogramming of metastatic lung adenocarcinoma
Advanced metastatic cancer poses utmost clinical challenges and may present molecular and cellular features distinct from an early-stage cancer. Herein, we present single-cell transcriptome profiling of metast...
-
Article
Open AccessMetabolic radiogenomics in lung cancer: associations between FDG PET image features and oncogenic signaling pathway alterations
This study investigated the associations between image features extracted from tumor 18F-fluorodeoxyglucose (FDG) uptake and genetic alterations in patients with lung cancer. A total of 137 patients (age, 62.7 ± ...
-
Article
Open AccessIntegrative genomic analysis of salivary duct carcinoma
Salivary duct carcinoma (SDC) is one of the most aggressive subtypes of salivary gland cancers. Conventional chemotherapy and/or radiation have shown only limited clinical efficacy in the treatment of recurren...
-
Article
Open AccessApplication of an open-chamber multi-channel microfluidic device to test chemotherapy drugs
The use of precision medicine for chemotherapy requires the individualization of the therapeutic regimen for each patient. This approach improves treatment efficacy and reduces the probability of administering...
