PreprintAll rights reservedmedRxiv
Cell-type-resolved somatic variant discovery from bulk long-read sequencing
- 1Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, TX, USA; D
Related
- Benchmarking Structural Variant Detection in Whole-Exome Sequencing of 67 Multiple Myeloma Cell Lines
- Whole‐Genome Sequencing and Single‐Cell Transcriptomics Identify Human Leukocyte Antigen Loci and a COG5 Variant in Aortic Dissection
- Somatic-only SDHD variant with tumor-specific loss of heterozygosity in metastatic carotid body tumor: a case report with review of literature
- Prevention of recurrence of severe combined immunodeficiency through preimplantation genetic testing: a case study of a novel IL2RG variant and confirmed maternal somatic mosaicism in Thailand
- Panel-based next-generation sequencing with copy number variant detection pipeline could increase the detection rate of hereditary colorectal cancer syndrome compared with Sanger sequencing
BibTeX
@misc{fu2026celltyperesolved,
title = {{Cell-type-resolved somatic variant discovery from bulk long-read sequencing}},
author = {Y. Fu and C. Morley and L. M. Masters and A. C. English and Y. Zhu and A. G. Moller and L. F. Paulin and B. Thompson and E. Kalef-Ezra and G. Weissenberger and H. Shen and M. Meridith and A. Manini and D. Horner and X. Reed and D. Muzny and Z. Jaunmuktane and Z. M. Khan and H. Mehta and W. Timp and K. Billingsley and G. S. Erwin and C. Proukakis and F. J. Sedlazeck},
howpublished = {medRxiv},
year = {2026},
month = sep,
doi = {10.64898/2026.09.01.26361966},
url = {https://www.medrxiv.org/content/10.64898/2026.09.01.26361966v1},
}
RIS
TY - UNPB
TI - Cell-type-resolved somatic variant discovery from bulk long-read sequencing
AU - Y. Fu
AU - C. Morley
AU - L. M. Masters
AU - A. C. English
AU - Y. Zhu
AU - A. G. Moller
AU - L. F. Paulin
AU - B. Thompson
AU - E. Kalef-Ezra
AU - G. Weissenberger
AU - H. Shen
AU - M. Meridith
AU - A. Manini
AU - D. Horner
AU - X. Reed
AU - D. Muzny
AU - Z. Jaunmuktane
AU - Z. M. Khan
AU - H. Mehta
AU - W. Timp
AU - K. Billingsley
AU - G. S. Erwin
AU - C. Proukakis
AU - F. J. Sedlazeck
PY - 2026
DA - 2026/09/01
PB - medRxiv
DO - 10.64898/2026.09.01.26361966
UR - https://www.medrxiv.org/content/10.64898/2026.09.01.26361966v1
ER -