Emily Mitchell

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.

Somatic and germline mutational processes across the tree of life

This study identifies somatic and germline mutational signatures across 661 species, revealing greater diversity than in human samples, likely due to environmental or biological factors.

DNMT3A-R882 mutations intrinsically drive dysfunctional neutropoiesis from human haematopoietic stem cells

This study investigates how DNMT3A-R882 mutations affect HSC differentiation into immune cells, finding they drive dysfunctional neutropoiesis linked to immune dysregulation and inflammatory disease risk.

The long-term effects of chemotherapy on normal blood cells

This study examines the long-term effects of chemotherapy on normal blood cells by analyzing mutation burdens and cell population structure in treated individuals.

Clonal dynamics and somatic evolution of haematopoiesis in mouse

This study examines clonal dynamics and somatic evolution in mouse haematopoiesis, finding that stem cells accrue mutations at a rate similar to human progenitors and exhibit distinct age-related patterns.

TopoQual polishes circular consensus sequencing data and accurately predicts quality scores

TopoQual improves PacBio CCS reads by correcting errors and predicting more accurate quality scores, enabling reliable somatic variant calling.

Insights into non-crossover recombination from long-read sperm sequencing

The paper uses long-read sperm sequencing to analyze non-crossover recombination events, finding variation in recombination rates and distinct mechanisms for non-crossover gene conversions.

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.

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.

Genome-wide mutational signatures of immunological diversification in normal lymphocytes

The paper analyzes the mutational landscape of normal lymphocytes, revealing off-target effects of programmed genome engineering and the impact of differentiation and microenvironment exposure.

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.