James M Holt

8PUBLICATIONS
41CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Sequence analysisPharmacogenomicsGenomics and transcriptomicsGene expression (incl. microarray and other genome-wide approaches)
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Publications (8)

|Aug 04, 2025
The Platinum Pedigree: a long-read benchmark for genetic variants.

Zev Kronenberg, Cillian Nolan, David Porubsky

|Apr 09, 2025
Sawfish: improving long-read structural variant discovery and genotyping with local haplotype modeling.

Christopher T Saunders, James M Holt, Daniel N Baker

|Dec 23, 2024
StarPhase: Comprehensive Phase-Aware Pharmacogenomic Diplotyper for Long-Read Sequencing Data.

James M Holt, John Harting, Xiao Chen

|Jan 25, 2024
HiPhase: jointly phasing small, structural, and tandem repeat variants from HiFi sequencing.

James M Holt, Christopher T Saunders, William J Rowell

|Mar 26, 2021
Reducing Sanger confirmation testing through false positive prediction algorithms.

James M Holt, Melissa Kelly, Brett Sundlof

|Feb 05, 2020
Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis.

Melissa A Wilk, Andrew T Braun, Philip M Farrell

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