Author

James Bauer

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Open access Nov 2026

Single-cell transcriptome-wide association analysis reveals epithelial cell-specific genetic susceptibility to colorectal cancer

Bulk-tissue transcriptome-wide association studies (TWAS) have identified colorectal cancer (CRC) susceptibility genes, but cell-type-specific regulatory mechanisms remain poorly understood. Here, we performed single-cell TWAS integrating matched germline genotypes and single-cell transcriptomes from normal colorectal...

Q. Li, C. Li, L. Lyu et al. · medRxiv · 0 citations

Open access Sep 2026

Long-read based detection of large copy number variants with potential functional significance using the ContextSV structural variant caller

ContextSV, a framework that integrates alignment evidence with copy number predictions derived from sequencing coverage and single-nucleotide variant allele frequencies to improve SV detection, serves as a valuable complement to existing long-read SV detection approaches by improving sensitivity for large and clinicall...

J. E. Perdomo, Mian Umair Ahsan, Jasmine Akoto et al. · NAR Genomics and Bioinformat... · 0 citations