#35 · Genomics
Mutational processes and selection shape cancer and vertebrate genome composition
The dominant thread is the use of large-scale sequencing to decode how mutational processes and selection shape genome composition and somatic change. One preprint curates 4,282 genome-wide sequencing datasets from 42 model systems exposed to 146 agents to define 49 experimental single-base substitution signatures for interpreting cancer mutational processes. A second preprint analyzes 753 vertebrate and 481 invertebrate genomes, identifying CpG depletion as the dominant dinucleotide axis, with AG/CT as a second-order consequence. The published CanSRMaPP study applies a different lens: a Bayesian model that infers selection on single genes and multigenic modules in tumor genomes while modeling background mutations. What is new across these items is the pairing of mutational signature inference with explicit selection modeling and comparative genomic scope, although the items differ in organism, question, and data type.
Published papers
Identifying multigenic modules under selection in the tumor genome.
CanSRMaPP is a Bayesian model inferring selection on single genes and multigenic modules in tumor genomes while modeling background mutations; applied to lung…
Preprints
A Compendium of 49 Experimental SBS Signatures for Decoding Human Cancer Mutational Processes
Curates 4,282 genome-wide sequencing datasets from 42 model systems exposed to 146 agents to define 49 experimental single-base substitution signatures linking…
Five hundred million years of methylation: tracing the mutational origins of vertebrate genome composition
Analyses 753 vertebrate and 481 invertebrate genomes showing CpG depletion as the dominant dinucleotide axis, with AG/CT as a second-order consequence of a…