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Now showing items 11-17 of 17
Chromosome-level assembly of Arabidopsis thaliana Ler reveals the extent of translocation and inversion polymorphisms.
(NATL ACAD SCIENCES, 2016-07-12)
Resequencing or reference-based assemblies reveal large parts of the small-scale sequence variation. However, they typically fail to separate such local variation into colinear and rearranged variation, because they usually ...
Allele balance bias identifies systematic genotyping errors and false disease associations.
(WILEY, 2019-01-01)
In recent years, next-generation sequencing (NGS) has become a cornerstone of clinical genetics and diagnostics. Many clinical applications require high precision, especially if rare events such as somatic mutations in ...
Immune selection determines tumor antigenicity and influences response to checkpoint inhibitors.
(NATURE PORTFOLIO, 2023-03-01)
In cancer, evolutionary forces select for clones that evade the immune system. Here we analyzed >10,000 primary tumors and 356 immune-checkpoint-treated metastases using immune dN/dS, the ratio of nonsynonymous to synonymous ...
The rate and spectrum of mosaic mutations during embryogenesis revealed by RNA sequencing of 49 tissues.
(BMC, 2020-05-27)
BACKGROUND: Mosaic mutations acquired during early embryogenesis can lead to severe early-onset genetic disorders and cancer predisposition, but are often undetectable in blood samples. The rate and mutational spectrum of ...
Phenotypic plasticity and genetic control in colorectal cancer evolution.
(NATURE PORTFOLIO, 2022-11-24)
Genetic and epigenetic variation, together with transcriptional plasticity, contribute to intratumour heterogeneity1. The interplay of these biological processes and their respective contributions to tumour evolution remain ...
Signatures of positive selection reveal a universal role of chromatin modifiers as cancer driver genes.
(NATURE PORTFOLIO, 2017-10-13)
Tumors are composed of an evolving population of cells subjected to tissue-specific selection, which fuels tumor heterogeneity and ultimately complicates cancer driver gene identification. Here, we integrate cancer cell ...
The co-evolution of the genome and epigenome in colorectal cancer.
(NATURE PORTFOLIO, 2022-11-24)
Colorectal malignancies are a leading cause of cancer-related death1 and have undergone extensive genomic study2,3. However, DNA mutations alone do not fully explain malignant transformation4-7. Here we investigate the ...