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25 sie 2021 · Over the course of an individual’s lifetime, normal human cells accumulate mutations1. Here we compare the mutational landscape in 29 cell types from the soma and germline using multiple...
- Extended Data Fig. 1 Number of Somatic Mutations Per Genome
Extended Data Fig. 1 Number of Somatic Mutations Per Genome...
- Extended Data Fig. 6 Telomere Length Comparison Between The Testes and Colon
Extended Data Fig. 6 Telomere Length Comparison Between The...
- Extended Data Fig. 2 Mutation Burden Across Tissues
Extended Data Fig. 2 Mutation Burden Across Tissues - The...
- Extended Data Fig. 8 Effect of Gene Expression and Transcription Strand Bias on Germline Mutation Rate
Extended Data Fig. 8 Effect of Gene Expression and...
- Extended Data Fig. 9 Mutational Signature Contribution to Mutational Biases Between The Germline and The Soma
Extended Data Fig. 9 Mutational Signature Contribution to...
- Extended Data Fig. 5 Chromosome Arm Or Focal Losses, Encompassing Either Notch1 Or Tp53 in The Oesophagus
Extended Data Fig. 5 Chromosome Arm Or Focal Losses,...
- Full Size Image
Full Size Image - The mutational landscape of human somatic...
- Mutation Fingerprints Encode Cellular Histories
The mutation profiles of human cells shine a light on the...
- Extended Data Fig. 1 Number of Somatic Mutations Per Genome
23 cze 2021 · Despite years of active research into the role of DNA repair and replication in mutagenesis, surprisingly little is known about the origin of spontaneous human mutation in the germ line.
28 mar 2024 · Germline variation and somatic mutation are intricately connected and together shape human traits and disease risks. Germline variants are present from conception, but they vary between...
25 wrz 2015 · Germline mutations are the principal cause of heritable disease and the ultimate source of evolutionary change. Similarly, somatic mutations are the primary cause of cancer and may contribute to the burden of human disease more broadly than previously appreciated.
13 sie 2021 · We statistically decompose variation in the rate and spectra of mutations along the genome using volume-regularized nonnegative matrix factorization. The analysis of a sequencing dataset (TOPMed) reveals nine processes that explain the variation in mutation properties between loci.
They reveal the scale of mutagenesis and link it with particular DNA repair processes, thereby providing new insights on the nature, impacts, and mechanisms of these errors in the human germ line.
Despite years of active research into the role of DNA repair and replication in mutagenesis, surprisingly little is known about the origin of spontaneous human mutation in the germ line. With the advent of high-throughput sequencing, genome-scale data have revealed statistical properties of mutagene ….
