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Dhong-Gun Won

dblp:309/3847 · DBLP profile ↗
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1ranked-venue papers
1as first author
1since 2021 · last 2021
—ORCID · none

Domains — the database's venue-derived domains; a paper can count in several

Applied, interdisciplinary, general and emerging computing · 1 · 1 first-author · 1 since 2021

Expertise — from the expertise taxonomy: the topics of the expert's papers under the CCF categories. A weight counts papers with recency: 1 for a paper about the topic, 0.3 when the topic is its context, halved every five years.

Interdisciplinary, comprehensive, and emerging computing
1 paper
Bioinformatics and computational biology · 100%

Topics — the 2 heaviest of 2, each with the papers that count most for it

TopicWeightPapersLastEvidence papers
Bioinformatics and computational biology › genomics
genomic variant analysis
0.512021
3Cnet: pathogenicity prediction of human variants using multitask learning with evolutionary constraints · Bioinform. 2021
Bioinformatics and computational biology › statistical genetics › variant effect prediction
variant pathogenicity prediction
0.512021
3Cnet: pathogenicity prediction of human variants using multitask learning with evolutionary constraints · Bioinform. 2021

Methods — techniques the papers use, named apart from their topics

recurrent neural network · 0.5multi-task learning · 0.5evolutionary conservation · 0.5
YearPublicationVenuePosition
2021 3Cnet: pathogenicity prediction of human variants using multitask learning with evolutionary constraints
abstract
MOTIVATION: Improvements in next-generation sequencing have enabled genome-based diagnosis for patients with genetic diseases. However, accurate interpretation of human variants requires knowledge from a number of clinical cases. In addition, manual analysis of each variant detected in a patient's genome requires enormous time and effort. To reduce the cost of diagnosis, various computational tools have been developed to predict the pathogenicity of human variants, but the shortage and bias of available clinical data can lead to overfitting of algorithms. RESULTS: We developed a pathogenicity predictor, 3Cnet, that uses recurrent neural networks to analyze the amino acid context of human variants. As 3Cnet is trained on simulated variants reflecting evolutionary conservation and clinical data, it can find disease-causing variants in patient genomes with 2.2 times greater sensitivity than currently available tools, more effectively discovering pathogenic variants and thereby improving diagnosis rates. AVAILABILITY AND IMPLEMENTATION: Codes (https://github.com/KyoungYeulLee/3Cnet/) and data (https://zenodo.org/record/4716879#.YIO-xqkzZH1) are freely available to non-commercial users. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
Dhong-Gun Won, Junwoo Woo, Kyoungyeul Lee
Bioinform.1