Author

Sebastian Ochoa

Baylor College of MedicineORCID 0000-0001-6334-110XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genomics· 1 Immunology· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 3 Research Focus:variant calling· 3 Assay:whole-genome sequencing· 3 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Bo YuaniD· 2 shared Claudia M.B. CarvalhoiD· 2 shared Donna Marie MuznyiD· 2 shared Haowei DuiD· 2 shared Ivan Kingyue ChinniD· 2 shared Jennifer Ellen PoseyiD· 2 shared Lisa Forbes Satter· 2 shared Ming Yin Lun· 2 shared

Activity by Year

2024-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Bo YuanORCID

Mutual co-authors in cluster

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4 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintSep 30, 2026

Integrated Clinical-Genomic Reanalysis Identifies Diagnostic Gaps and Candidate Genes in a Pediatric Rare Disease Cohort

Hyunjung Gu, Aniko Sabo, Sharayu V. Jangam…·Katherine Y. King

DOI 10.64898/2026.09.24.26363679

humanwhole-exome sequencing

𝕏 PostBluesky

ImmunologyJournal of Human ImmunityPeer-reviewedMay 1, 2026

Distinct EBV-Associated Phenotypes Due to a Novel Homozygous Missense Variant in CD27.

Rui Yang, Solomon K Turunbedu, Sara Nandiwada…·Lisa Forbes Satter

This study identifies a novel homozygous CD27 variant causing EBV susceptibility and variable clinical outcomes, including lymphoproliferative disease and Hodgkin lymphoma.

DOI 10.70962/cis2026abstract.51

humanexperimental assay

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Genetic & Genomic MedicinemedRxivPreprintAug 8, 2025

Community-Driven Copy Number Variant Discovery at Scale: Results from a Rare Disease Genomics Hackathon

Ming Yin Lun, Jennifer Ellen Posey, Jesse D. Bengtsson…·Claudia M.B. Carvalho

The paper presents a scalable CNV analysis workflow applied to rare disease cohorts, identifying 39 candidate pathogenic SVs within 2 days using collaborative tools and databases.

DOI 10.1101/2025.08.08.25333317

humanwhole-genome sequencing

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GenomicsbioRxivPreprintOct 27, 2024

VizCNV: An integrated platform for concurrent phased BAF and CNV analysis with trio genome sequencing data

Haowei Du, Ming Yin Lun, Lidiia Gagarina…·Claudia M.B. Carvalho

VizCNV is a tool for analyzing CNVs and phased BAF from trio genome sequencing data, identifying de novo and inherited CNVs in immunodeficiency cases.

2 citations

humanwhole-genome sequencing

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