Author

Charlly Kao

Children's Hospital of Philadelphia

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Bioinformatics· 2

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Assay:long-read sequencing· 1 Assay:scRNA-seq· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Hakon H. HakonarsoniD· 2 shared Kai WangiD· 2 shared Fang LiiD· 1 shared Fernanda MafraiD· 1 shared Hui‐Qi QuiD· 1 shared Joe ChaniD· 1 shared Katharina WimmeriD· 1 shared Michael V. GonzaleziD· 1 shared

Activity by Year

2019-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersBioinformatics

Hakon H. HakonarsonORCID

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2 papers

Recent·Most cited

Single-Cell Omics for Transcriptome CHaracterization (SCOTCH): isoform-level characterization of gene expression through long-read single-cell RNA sequencing

Zhuoran Xu, Hui‐Qi Qu, Joe Chan, Shizhuo Mu, Charlly Kao, Hakon H. Hakonarson, Kai Wang

SCOTCH improves isoform-level gene expression characterization using long-read single-cell RNA sequencing by refining sub-exon boundaries and reducing false positives.

Nature Communications · May 7, 2026Peer-reviewedBioinformatics

LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing data

Fang Li, Charlly Kao, Michael V. Gonzalez, Fernanda Mafra, Renata Pellegrino da Silva, Mingyao Li, Sören-Sebastian Wenzel, Katharina Wimmer, Hakon H. Hakonarson, Kai Wang

LinkedSV detects mosaic structural variants from linked-read sequencing data, outperforming existing tools and identifying SVs missed by conventional sequencing methods.

Nature Communications · Dec 6, 2019Peer-reviewedBioinformatics