Publications

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Found 191 Results

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PLoS One

Genetic epidemiology of moyamoya disease and CADASIL in over 120,000 healthy Korean individuals: Insights into cerebrovascular disorders

September 22, 2025

Sci Rep

Genetic epidemiology of epithelial-stromal TGFBI dystrophies in a large Korean population

July 14, 2025

Mol Neurodegener

Mutations in NEK1 cause ciliary dysfunction as a novel pathogenic mechanism in amyotrophic lateral sclerosis

May 20, 2025

Cancer Res.

Integrating Plasma Cell-Free DNA Fragment End Motif and Size with Genomic Features Enables Lung Cancer Detection

May 2, 2025

Cancers (Basel)

Microbial and Immune Landscape of Malignant Ascites: Insights from Gut, Bladder, and Ascitic Fluid Analyses

April 10, 2025

ESMO Open

PALB2 germline pathogenic variants: frequency, clinical features, and functional analysis of c.3350+5G>A variant in 3987 Korean cancer patients

February 24, 2025

Ann Lab Med

Carrier Frequency and Incidence of MUTYH-Associated Polyposis Based on Database Analysis in East Asians and Koreans

January 1, 2025

Cancers (Basel)

Prevalence Estimation of the PALB2 Germline Variant in East Asians and Koreans through Population Database Analysis

September 28, 2024

Sci Rep

Deep learning model integrating cfDNA methylation and fragment size profiles for lung cancer diagnosis

June 26, 2024

Medicine (Baltimore)

Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders harboring RMRP mutations in two Korean children: A case report

May 24, 2024

Featured Presentations

AACR 2023

Deep learning algorithm for cancer detection using multimodal characteristics of whole methylome sequencing of cf-DNA

AACR 2022

Deep Learning Algorithm for Multi-cancer Detection and Classification using cf-WGS

ESMO 2022

Deep Learning-based Multimodal Ensemble Algorithms for Multi-cancer Detection