Author

James Paul Hwang

Baylor College of Medicine

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

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Approach:experimental assay· 1 Approach:statistical model· 1

Frequent Co-Authors

Claudia M.B. CarvalhoiD· 2 shared Ming Yin Lun· 2 shared Adam AmeuriD· 1 shared Ann NordgreniD· 1 shared Anna LindstrandiD· 1 shared Anna Linstrand· 1 shared Christopher M. GrochowskiiD· 1 shared Donna Marie MuznyiD· 1 shared

Activity by Year

2024-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersGenomics

Claudia M.B. CarvalhoORCID

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2 papers

Recent·Most cited

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

Haowei Du, Ming Yin Lun, Lidiia Gagarina, Michele G. Mehaffey, James Paul Hwang, Shalini N. Jhangiani, Sravya Venkata Bhamidipati, Donna Marie Muzny, M. Cecilia Poli, Sebastian Ochoa, Ivan Kingyue Chinn, Anna Linstrand, Jennifer Ellen Posey, Richard A. Gibbs, James R. Lupski, 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.

bioRxiv · Oct 27, 2024 · PreprintGenomics

Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions

Kristine Bilgrav Sæther, Jesper Eisfeldt, Jesse D. Bengtsson, Ming Yin Lun, Christopher M. Grochowski, Medhat Mahmoud, Hsiao‐Tuan Chao, Jill Anne Rosenfeld, Pengfei Liu, Jakob Schuy, Adam Ameur, Undiagnosed Diseases Network, James Paul Hwang, Fritz Joachim Sedlazeck, Weimin Bi, , Anna Lindstrand

The paper investigates how different genome references affect inversion detection, showing that T2T-CHM13 and long-read sequencing improve resolution of challenging inversions.

medRxiv · Apr 22, 2024 · PreprintGenetic & Genomic Medicine