Korea University at ASHG 2026

Oct 20–24, 2026 Montréal, Canada ~7.5k attendees Website

Korea University brings 7 presentations from 2 research groups to ASHG 2026 in Montréal. Its program centres on computational genomics and therapeutic discovery. AN Lab brings a two-layer autism phenotype fingerprint and long-read sequencing of 71 Korean autism families, while AN Lab · AI for Nature brings autism VUS reclassification and genomic foundation-model analysis of CD19 enhancer variants.

OrganizationASHG 2026 Attendance
Korea University
Seoul, South Korea
5 PhD Students · 1 Undergrad
AN Labjoonanlab.github.io
Dry lab~23 people
Trains foundation models on scRNA-seq and scATAC-seq data. Uses long-read WGS for autism genetics and AI drug discovery.
64 papers since 2024
›
Proteogenomic analysis reveals non-small cell lung cancer subtypes predicting chromosome instability, and tumor microenvironment
Nature Communications, 2024
An integrative single-cell atlas for exploring the cellular and temporal specificity of genes related to neurological disorders during human brain development
Experimental & Molecular Medicine, 2024
Whole genome sequencing analysis identifies sex differences of familial pattern contributing to phenotypic diversity in autism
Genome Medicine, 2024
Source: OpenAlex author A5041088179
Funded by NRF, CNRF
›
NRF, NRF Research Fellowship for Master's Students · active
“Congratulations to Ha-Eun Jeong and [name] on being selected for the NRF Research Fellowship for Master's Students”
CNRF, CNRF Fellow · active
“CNRF Fellow”
Source: lab pages
13 platforms and techniques
›
Analyzes
scRNA-seq, scATAC-seq, Long-read WGS, Massively parallel reporter assays
Techniques
Perturbation modeling, Cell-state foundation models, In silico screens, Genomic language models, Variant effect prediction, Trio/quad genetics, Structural variants, WFSD methodology, Proteogenomics
Source: lab pages
Currently hiring
›
“1–2 positions open Computational biologists with strong publication record in statistical genetics, deep learning for genomics, or single-cell analysis.”
Source: lab positions page
Poster
Wed Oct 21
2:30 pm
A two-layer phenotype fingerprint for autism via sentence-attention transformers and LLM silver labeling on clinical reports
Collaborators: CHA University
AutismArtificial intelligencePhenotypeCharacterization of disorders
Poster
Thu Oct 22
4:15 pm
A2Denovo expands de novo variant discovery in long-read sequencing of 71 Korean autism families
Collaborators: Chungnam National University, Seoul National University Bundang Hospital +2 more
Long-read sequencingGenomicsAutismVariant calling
Poster
Fri Oct 23
2:30 pm
AnnQ quantifies abnormal cellular states from single-cell annotation uncertainty
Single-cellComputational toolsBioinformaticsNeurodevelopmental
AN Lab · AI for Naturejoonanlab.github.io
Dry lab~23 people
Trains foundation models on scRNA-seq, scATAC-seq, long-read WGS and multi-omics data. Studies autism genetics and brain development with Seoul National University Bundang Hospital clinicians.
64 papers since 2024
›
Proteogenomic analysis reveals non-small cell lung cancer subtypes predicting chromosome instability, and tumor microenvironment
Nature Communications, 2024
An integrative single-cell atlas for exploring the cellular and temporal specificity of genes related to neurological disorders during human brain development
Experimental & Molecular Medicine, 2024
Whole genome sequencing analysis identifies sex differences of familial pattern contributing to phenotypic diversity in autism
Genome Medicine, 2024
Source: OpenAlex author A5041088179
Funded by National Research Foundation of Korea
›
National Research Foundation of Korea, NRF Research Fellowship for Master's Students · active
“Ha-Eun Jeong and [name] on being selected for the NRF Research Fellowship for Master's Students”
Source: lab pages
13 platforms and techniques
›
Analyzes
scRNA-seq, scATAC-seq, Long-read whole-genome sequencing, Massively parallel reporter assays
Techniques
Perturbation modeling, Cell-state foundation models, In silico screens, Genomic language models, Variant effect prediction, Trio/quad genetics, Structural variants, Proteogenomics, GWAS + eQTL + pQTL
Source: lab pages
Currently hiring
›
“Postdoctoral Researcher — 1–2 positions open”
Source: lab positions page
Poster
Thu Oct 22
4:15 pm
Reclassification of de novo coding VUS in autism spectrum disorder cohorts using SFARI-tiered PS2 and calibrated PP3/BP4 evidence
Collaborators: Seoul National University Bundang Hospital, Soonchunhyang University +2 more
AutismComputational toolsDiagnosticsExome/genome sequencing
Poster
Thu Oct 22
4:15 pm
Poster
Fri Oct 23
2:30 pm
Long-read-trained confidence scoring of short-read structural variants and tandem repeats reveals novel SV candidates and systemic repeat miscalling
Machine learningLong-read sequencingCopy number/structural variationTriplet and other repeats
1 more presenter — research group not yet identified

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