Tim H. H. Coorens

Integrated map of somatic mosaicism across human tissues in 25 individuals

The paper presents an integrated analysis of somatic mosaicism across 25 individuals, revealing tissue-specific mutational processes and epigenetic states.

A comprehensive atlas of somatic mutation rates and mutational signatures in normal human cells

The paper reports mutation rates and mutational signatures across 53 normal human cell types, revealing variation in mutation accumulation and identifying known and unknown mutational processes.

Benchmarking of duplex sequencing approaches to reveal somatic mutation landscapes

This study benchmarks six duplex sequencing technologies to evaluate their performance in detecting somatic mutations across different genomic contexts and tissue types.

A comprehensive view of somatic mosaicism by single-cell DNA analysis

The paper uses single-cell DNA sequencing to analyze somatic mosaicism in postmortem lung and colon tissues, revealing mutation heterogeneity, chromosomal abnormalities, and cellular ancestry.

Comprehensive benchmarking of somatic single-nucleotide variant and indel detection at ultra-low allele fractions using short- and long-read data

The paper benchmarks somatic variant and indel detection at low allele fractions using short- and long-read data, finding sensitivity and precision around 80% at 300x coverage.

Extensive and differential platinum chemotherapy mutagenesis in children

This study uses duplex sequencing to analyze platinum chemotherapy-induced mutagenesis in pediatric tissues, revealing extensive mutational signatures and tissue-specific effects.

A telomere-to-telomere map of somatic mutation burden and functional impact in cancer

The paper maps somatic mutation burden and functional impact across the cancer genome using telomere-to-telomere sequencing, revealing novel mutation hotspots and regulatory rewiring mechanisms.

The somatic mutation landscape of normal gastric epithelium

This study uses whole-genome sequencing to analyze somatic mutations in normal gastric epithelium, revealing mutation rates, clonal dynamics, and associations with cancer risk factors.

Cancer-independent, second somatic NF1 mutation of normal tissues in neurofibromatosis type 1

The paper identifies second somatic NF1 mutations in normal tissues of neurofibromatosis type 1 patients through whole genome and exome sequencing, showing positive selection of truncating mutations in these tissues.

Convergent evolution of somatic escape variants in SERPINA1 in the liver in alpha-1 anti-trypsin deficiency

The paper identifies convergent somatic escape variants in SERPINA1 in A1AT deficiency patients, showing adaptive mutations that counteract the disease-causing germline variant.

Single-cell multi-omics map of human foetal blood in Down's Syndrome

This study integrates single-cell multi-omics data from human foetal blood to show that trisomy restructures enhancer-gene maps, leading to dysregulated erythroid differentiation and haematological abnormalities in Down's Syndrome.

The mutational landscape of human somatic and germline cells

This study compares mutational landscapes in somatic and germline cells across 29 anatomical structures, identifying key mutational signatures and their contributions to different cell types.

Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells

This study shows that inherited MUTYH mutations increase somatic mutation rates and specific mutational signatures in normal human cells, contributing to cancer risk without causing premature aging.

Clonal dynamics of haematopoiesis across the human lifespan

This study tracks clonal dynamics in human haematopoiesis across age, finding that clonal diversity sharply declines after 70, driven by positive selection on many genes and loss of Y chromosome in males.

Genetic and chemotherapeutic causes of germline hypermutation

The paper identifies genetic and chemotherapeutic causes of germline hypermutation by analyzing genome-wide sequences of families with rare genetic diseases.

Somatic mutation rates scale with lifespan across mammals

This study finds that somatic mutation rates per year decrease with species lifespan across mammals, suggesting evolutionary constraints on mutagenesis and its role in ageing.

Single cell mRNA signals reveal a distinct developmental state of KMT2A-rearranged infant B-cell acute lymphoblastic leukemia

The paper identifies a distinct developmental state in KMT2A-rearranged infant B-cell acute lymphoblastic leukemia using single-cell transcriptome analysis.

Elevated somatic mutation burdens in normal human cells due to defective DNA polymerases

The paper shows that germline mutations in POLE or POLD1 lead to elevated mutation burdens in normal human cells and tissues, but do not cause premature aging or other phenotypic features beyond early-onset cancer.

Life without mismatch repair

The paper quantifies mismatch repair (MMR) activity in human tissues by analyzing mutation rates in individuals with constitutional MMR deficiency, revealing genotype-specific mutational signatures and the role of MMR components in DNA repair.

Somatic mutations reveal widespread mosaicism and mutagenesis in human placentas

This study uses whole genome sequencing of placental biopsies to show that human placentas exhibit clonal expansions, copy number changes, and developmental bottlenecks similar to childhood cancer.

Extensive phylogenies of human development reveal variable embryonic patterns

The paper reconstructs phylogenies of human development using whole-genome sequencing to show variable embryonic patterns and lineage asymmetries across individuals and tissues.

Somatic evolution in non-neoplastic IBD-affected colon

The paper analyzes somatic mutations in colonic crypts of IBD patients and controls, finding higher mutation rates and clonal expansions in IBD-affected tissue.

Lineage tracing of human embryonic development and foetal haematopoiesis through somatic mutations

This study uses whole-genome sequencing of single-cell haematopoietic colonies to trace lineage and divergence of embryonic and extra-embryonic tissues in human fetal development.