This study uses whole-genome sequencing and functional assays to improve genetic diagnosis of sensorineural hearing loss, achieving a 55.6% diagnostic yield through comprehensive genomic profiling.

Cell Reports Medicine · Jul 1, 2025Peer-reviewedGenetic & Genomic Medicine

Temporal and spatial composition of the tumor microenvironment predicts response to immune checkpoint inhibition

Noah F. Greenwald, Iris Nederlof, Cameron Sowers, Daisy Yi Ding, Seongyeol Park, Alex Kong, Kathleen E. Houlahan, Sricharan Reddy Varra, Manon de Graaf, Veerle C. M. Geurts, Candace C. Liu, Jolene S. Ranek, Leonie Voorwerk, Michiel de Maaker, Adam Kagel, , Michael Angelo

The paper uses spatial imaging and computational analysis to identify features in metastatic tumors that predict response to immune checkpoint inhibition in TNBC patients.

bioRxiv · Jan 26, 2025 · PreprintCancer Biology

APOBEC3A, not APOBEC3B, drives deaminase mutagenesis in human gastric epithelium

Yohan An, Ji‐Hyun Lee, Joonoh Lim, Jeonghwan Youk, Seongyeol Park, Ji‐Hyung Park, Kijong Yi, Tae‐Woo Kim, Chang Hyun Nam, Won Hee Lee, Soo Ah Oh, Yoo Jin Bae, Junehwak Lee, Jung Woo Park, Jie‐Hyun Kim, , Young Seok Ju

This study shows APOBEC3A, not APOBEC3B, causes significant mutagenesis in human gastric epithelium through whole-genome sequencing of organoids with inducible APOBEC3A or APOBEC3B.

bioRxiv · Oct 28, 2024 · PreprintGenomics

Target-enhanced whole-genome sequencing (TE-WGS) shows clinical validity equivalent to commercially available targeted oncology panel

Sangmoon Lee, Jin Roh, Jun Sung Park, İslam Oğuz Tuncay, Won‐Chul Lee, Jung‐Ah Kim, Brian Baek-Lok Oh, Jong-Yeon Shin, Jeong Seok Lee, Young Seok Ju, Ryul Kim, Seongyeol Park, Jaemo Koo, Hansol Park, Joonoh Lim, , Minsuk Kwon

This study compares target-enhanced whole-genome sequencing (TE-WGS) with a commercial targeted panel, showing TE-WGS detects all variants and provides additional clinical insights.

Cancer Research and Treatment · Sep 19, 2024Peer-reviewedGenetic & Genomic Medicine

Clonal dynamics in early human embryogenesis inferred from somatic mutation

Seongyeol Park, Nanda Maya Mali, Ryul Kim, Jeong‐Woo Choi, Junehawk Lee, Joonoh Lim, Jung Min Park, Jung Woo Park, Donghyun Kim, Taewoo Kim, Kijong Yi, June Hyug Choi, Seong Gyu Kwon, Joo Hee Hong, Jeonghwan Youk, , Young Seok Ju

This study uses somatic mutations to reconstruct cellular phylogenetic trees and analyze clonal dynamics in early human embryogenesis.

Nature · Aug 25, 2021Peer-reviewedGenomics

Mutational impact and signature of ionizing radiation

Jeonghwan Youk, Hyun Woo Kwon, Joonoh Lim, Eunji Kim, Ryul Kim, Seongyeol Park, Kijong Yi, Sara Jeon, Jinwook Choi, Hyelin Na, Eun-Seok Lee, Young-Won Cho, Dong‐Wook Min, Hyojin Kim, Yeong-Rok Kang, , Young Seok Ju

The paper investigates the mutational impact of ionizing radiation on normal cells and confirms these signatures in IR-induced cancers.

bioRxiv · Jan 12, 2021 · PreprintGenomics