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Author

Chad Tomlinson

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5 papers indexed here

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Open access Nov 2026

The genetic architecture of human DNA methylome variation

Population DNA methylome analyses remain largely confined to reference-defined genomic space despite extensive human genetic diversity. A central challenge is therefore to define comparable methylation phenotypes across diverse genomes and map the genetic architecture of methylome variation. Here, using 460 haplotypes...

Tian-Jie Liu, Juan F. Macias-Velasco, X. Zhuo et al. · 0 citations
Oct 2026

Chromosome-scale genome assembly and annotation of Octodon degus.

High-quality reference genomes are essential for comparative and functional genomics yet remain unavailable for many emerging model organisms. Here, we report OctDeg2.0, a chromosome-level genome assembly and annotation of the degu (Octodon degus), generated using PacBio HiFi long-read sequencing and Hi-C scaffolding f...

J. Chiu, Nathan R. Zemke, Xiao-Meng Gao et al. · 0 citations
Open access Oct 2026

Comprehensive benchmarking of somatic mutation detection by the SMaHT Network.

Somatic mosaicism is increasingly recognized as a fundamental feature of human biology, yet the detection of somatic mutations remains challenging. The Somatic Mosaicism across Human Tissues (SMaHT) Network conducted large-scale benchmarking experiments involving cell lines and donor tissues to evaluate sequencing tech...

A. Abyzov, Abhiram Natu, Adam Voshall et al. · 1 citation
Open access Oct 2026

A pangenomic method for establishing a synthetic somatic variant resource in HapMap mixtures.

Evaluating multiple callers showed that telomere-to-telomere CHM13 alignment improves structural variant detection and offers advantages in difficult-to-map regions compared to GRCh38, and a binomial-based model was developed to estimate coverage requirements for variant detection.

Nahyun Kong, Zi-Tian Tang, Andrew Ruttenberg et al. · 1 citation
Open access Aug 2026

Human panepigenome represents epigenomic diversity

The human pangenome captures genetic diversity beyond a single linear reference, yet conventional DNA methylome maps largely assume that the underlying CpG substrate is fixed. Here we present a first draft of the human panepigenome on DNA methylation, generated from 440 haplotype-resolved long-read methylomes spanning...

Zheng Dong, Juan F. Macias-Velasco, X. Zhuo et al. · 0 citations

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