---
title: "OFC-SV: Web portal for interpreting structural variants in African and Asian nsOFC cohorts"
id: "biorxiv-6-ofc-sv-interpreting-structural-variants-in-african-and-asian-cohorts-with-non"
canonical_url: "https://medichelpline.com/clinical-feed/biorxiv-6-ofc-sv-interpreting-structural-variants-in-african-and-asian-cohorts-with-non"
content_type: "clinical_feed_article"
specialty: "Pediatrics"
source_name: "bioRxiv (Biomedical Preprints)"
source_url: "https://www.biorxiv.org/content/10.64898/2026.10.13.757087v1?rss=1"
published_at: "2026-10-19T12:00:00.000Z"
evidence_level: "Verified Feed"
license: "CC-BY-NC-4.0 / Informational Use"
---
# OFC-SV: Web portal for interpreting structural variants in African and Asian nsOFC cohorts
## Provenance & Clinical Metadata
- **Canonical URL:** https://medichelpline.com/clinical-feed/biorxiv-6-ofc-sv-interpreting-structural-variants-in-african-and-asian-cohorts-with-non
- **Specialty:** [Pediatrics](https://medichelpline.com/clinical-feed/pediatrics.md)
- **Primary Source:** bioRxiv (Biomedical Preprints)
- **Source URL:** [Original Journal Publication](https://www.biorxiv.org/content/10.64898/2026.10.13.757087v1?rss=1)
- **Published At:** 2026-10-19T12:00:00.000Z
- **Evidence Rating:** Verified Feed
## Executive GIST (TL;DR)
- The authors developed **OFC-SV**, a web-based data portal for interpreting **structural variants** in genomic datasets linked to **non-syndromic orofacial clefts** (nsOFC). - The portal integrates data from The Gabriella Miller Kids First Pediatric Research Program; it targets cohorts of children of African and Asian ancestry. - Investigators identified and made explorable 41 novel SV genes; 13 of these share regulatory perturbations previously reported as single-nucleotide variant (SNV) genes. - The portal visualizes epigenomic disruptions. It also maps complex oligogenic interactions within regulatory pathways to aid biological interpretation of computational signals. - Users can explore regulatory pathway visualizations and translated computational signals via the public URL provided by the study team. - The preprint status was reported; the manuscript has not undergone peer review and the authors declared no competing interests. - Funding sources stated include the NIH Common Fund and NIDCR grant 5R03DE033083; supplementary materials and data/code links were made available on the preprint page. - The study did not report details about experimental validation of each candidate SV gene within the main abstract; specific methodological parameters were not described in the abstract text provided here.
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Kevin Chen 1 University of Connecticut; * [Find this author on Google Scholar](https://www.biorxiv.org/lookup/google-scholar?link_type=googlescholar&gs_type=author&author%5B0%5D=Kevin%2BChen%2B "Open in new tab") * [Find this author on PubMed](https://www.biorxiv.org/lookup/external-ref?access_num=Chen%20K&link_type=AUTHORSEARCH "Open in new tab") * [Search for this author on this site](https://www.biorxiv.org/search/author1%3AKevin%2BChen%2B) Yeonsoo Chung 1 University of Connecticut; * [Find this author on Google Scholar](https://www.biorxiv.org/lookup/google-scholar?link_type=googlescholar&gs_type=author&author%5B0%5D=Yeonsoo%2BChung%2B "Open in new tab") * [Find this author on PubMed](https://www.biorxiv.org/lookup/external-ref?access_num=Chung%20Y&link_type=AUTHORSEARCH "Open in new tab") * [Search for this author on this site](https://www.biorxiv.org/search/author1%3AYeonsoo%2BChung%2B) Timothy Becker 2 Connecticut College; * [Find this author on Google Scholar](https://www.biorxiv.org/lookup/google-scholar?link_type=googlescholar&gs_type=author&author%5B0%5D=Timothy%2BBecker%2B "Open in new tab") * [Find this author on PubMed](https://www.biorxiv.org/lookup/external-ref?access_num=Becker%20T&link_type=AUTHORSEARCH "Open in new tab") * [Search for this author on this site](https://www.biorxiv.org/search/author1%3ATimothy%2BBecker%2B) Dashzeveg Bayarsaihan 3 University of Connecticut Health Center * [Find this author on Google Scholar](https://www.biorxiv.org/lookup/google-scholar?link_type=googlescholar&gs_type=author&author%5B0%5D=Dashzeveg%2BBayarsaihan%2B "Open in new tab") * [Find this author on PubMed](https://www.biorxiv.org/lookup/external-ref?access_num=Bayarsaihan%20D&link_type=AUTHORSEARCH "Open in new tab") * [Search for this author on this site](https://www.biorxiv.org/search/author1%3ADashzeveg%2BBayarsaihan%2B) Dong-Guk Shin 1 University of Connecticut; * [Find this author on Google Scholar](https://www.biorxiv.org/lookup/google-scholar?link_type=googlescholar&gs_type=author&author%5B0%5D=Dong-Guk%2BShin%2B "Open in new tab") * [Find this author on PubMed](https://www.biorxiv.org/lookup/external-ref?access_num=Shin%20D&link_type=AUTHORSEARCH "Open in new tab") * [Search for this author on this site](https://www.biorxiv.org/search/author1%3ADong-Guk%2BShin%2B) * [ORCID record for Dong-Guk Shin](http://orcid.org/0009-0004-4649-7363 "Open in new tab") * For correspondence: dong.shin@uconn.edu * [Abstract](https://www.biorxiv.org/content/10.64898/2026.10.13.757087v1)[](https://www.biorxiv.org/panels_ajax_tab/biorxiv_tab_art/node:5885142/1) * [Info/History](https://www.biorxiv.org/content/10.64898/2026.10.13.757087v1.article-info)[](https://www.biorxiv.org/panels_ajax_tab/biorxiv_tab_info/node:5885142/1) * [Metrics](https://www.biorxiv.org/content/10.64898/2026.10.13.757087v1.article-metrics)[](https://www.biorxiv.org/panels_ajax_tab/article_tab_metrics/node:5885142/1) * [Supplementary material](https://www.biorxiv.org/content/10.64898/2026.10.13.757087v1.supplementary-material)[](https://www.biorxiv.org/panels_ajax_tab/biorxiv_tab_data/node:5885142/1) * [Data/Code](https://www.biorxiv.org/content/10.64898/2026.10.13.757087v1.external-links)[](https://www.biorxiv.org/panels_ajax_tab/article_tab_data_code/node:5885142/1) * [ Preview PDF](https://www.biorxiv.org/content/10.64898/2026.10.13.757087v1.full.pdf+html)[](https://www.biorxiv.org/panels_ajax_tab/biorxiv_tab_pdf/node:5885142/1) ![Loading](https://www.biorxiv.org/sites/all/modules/contrib/panels_ajax_tab/images/loading.gif) ## Abstract OFC-SV is a web-based data portal designed to help interpret structural variants (SVs) in non-syndromic orofacial clefts genomic data published by The Gabriella Miller Kids First Pediatric Research Program. The portal offers a user-friendly way to explore 41 novel SV genes (of these 13 sharing regulatory perturbations already reported in the literature as SNV genes) potentially responsible for non-syndromic OFC (nsOFC) from a cohort of children of African and Asian ancestry. A salient feature of the portal is its unique ability to capture epigenomic disruptions and complex oligogenic interactions in visualized regulatory pathways, thus advancing the frontier of disease etiology through convenient translation of computational signals into biological interpretations. ### Competing Interest Statement The authors have declared no competing interest. ## Footnotes * ## Funder Information Declared NIH Common Fund, https://ror.org/001d55x84, NIDCR-5R03DE033083 Copyright The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a [CC-BY-NC-ND 4.0 International license](http://creativecommons.org/licenses/by-nc-nd/4.0/). bioRxiv and medRxiv thank the following for their generous financial support: > The Chan Zuckerberg Initiative, Cold Spring Harbor Laboratory, the Sergey Brin Family Foundation, California Institute of Technology, Centre National de la Recherche Scientifique, Fred Hutchinson Cancer Center, Imperial College London, Massachusetts Institute of Technology, Stanford University, The University of Edinburgh, University of Washington, and Vrije Universiteit Amsterdam. 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[ Download PDF](https://www.biorxiv.org/content/10.64898/2026.10.13.757087v1.full.pdf) Print/Save Options [Download PDF](https://www.biorxiv.org/content/biorxiv/early/2026/10/19/2026.10.13.757087.full.pdf)Full Text & In-line FiguresXML [More Info](https://www.biorxiv.org/about/FAQ#PrintOptions "More Information on Print/Save Options") [Supplementary Material ](https://www.biorxiv.org/content/10.64898/2026.10.13.757087v1.supplementary-material) [ Data/Code](https://www.biorxiv.org/content/early/2026/10/19/2026.10.13.757087.external-links) [ Email](https://www.biorxiv.org/ "Email this Article") [ Share](https://www.biorxiv.org/) OFC-SV: Interpreting structural variants in African and Asian cohorts with non-syndromic orofacial clefts Kevin Chen, Yeonsoo Chung, Timothy Becker, Dashzeveg Bayarsaihan, Dong-Guk Shin bioRxiv 2026.10.13.757087; doi: https://doi.org/10.64898/2026.10.13.757087 This article is a preprint and has not been certified by peer review [[what does this mean?](https://www.biorxiv.org/about/FAQ#unrefereed)]. 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